Canonical Allele Identifier: CA208730
Gene: GOSR2 HGNC NCBI
LRRC37A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 211092
ClinVar RCV Id: RCV000194518 RCV000198527 RCV000439078 RCV000703812
dbSNP Id: rs141554661
ExAC: 17:45009566 G / A
gnomAD v2: 17-45009566-G-A
gnomAD v3: 17-46932200-G-A
gnomAD v4: 17-46932200-G-A
MyVariant Identifiers: chr17:g.45009566G>A (hg19) chr17:g.46932200G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46932200G>A , CM000679.2:g.46932200G>A GRCh38
NC_000017.10:g.45009566G>A , CM000679.1:g.45009566G>A GRCh37
NC_000017.9:g.42364565G>A NCBI36
NG_031806.1:g.14081G>A
NG_031806.2:g.14081G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225567.9:c.336+1G>A (GOSR2) ENSP00000225567.4:n.336+1G>A
ENST00000393456.7:c.282+1G>A (GOSR2) ENSP00000377101.3:n.282+1G>A
ENST00000415811.7:c.333+1G>A (GOSR2) ENSP00000394559.3:n.333+1G>A
ENST00000570879.2:c.447+1G>A (GOSR2) ENSP00000458154.2:n.447+1G>A
ENST00000571658.2:n.2775G>A (GOSR2)
ENST00000573224.2:c.336+1G>A (GOSR2) ENSP00000461784.2:n.336+1G>A
ENST00000575949.6:c.337G>A (GOSR2) ENSP00000458911.1:p.Val113Ile
ENST00000576910.7:c.330+1G>A (GOSR2) ENSP00000461673.2:n.330+1G>A
ENST00000623037.2:c.336+1G>A (GOSR2) ENSP00000492669.1:n.336+1G>A
ENST00000638189.1:c.336+1G>A (GOSR2) ENSP00000491785.1:n.336+1G>A
ENST00000638216.1:c.282+1G>A (GOSR2) ENSP00000491961.1:n.282+1G>A
ENST00000638219.1:c.336+1G>A (GOSR2) ENSP00000491399.1:n.336+1G>A
ENST00000638374.1:c.-22+1G>A (GOSR2) ENSP00000492139.1:n.-22+1G>A
ENST00000638468.1:c.230+1G>A (GOSR2)
ENST00000638579.1:c.336+1G>A (GOSR2) ENSP00000491266.1:n.336+1G>A
ENST00000638634.1:c.333+1G>A (GOSR2) ENSP00000491946.1:n.333+1G>A
ENST00000638697.1:c.336+1G>A (GOSR2) ENSP00000492360.1:n.336+1G>A
ENST00000638838.1:c.333+1G>A (GOSR2) ENSP00000492524.1:n.333+1G>A
ENST00000638892.1:c.-34+1G>A (GOSR2) ENSP00000492607.1:n.-34+1G>A
ENST00000639031.1:c.-22+1G>A (GOSR2) ENSP00000491283.1:n.-22+1G>A
ENST00000639066.1:n.369+1G>A (GOSR2)
ENST00000639080.1:n.252+1G>A (GOSR2)
ENST00000639199.1:c.336+1G>A (GOSR2) ENSP00000491396.1:n.336+1G>A
ENST00000639287.1:c.282+1G>A (GOSR2) ENSP00000492278.1:n.282+1G>A
ENST00000639365.1:c.336+1G>A (GOSR2) ENSP00000491253.1:n.336+1G>A
ENST00000639388.1:c.282+1G>A (GOSR2) ENSP00000492544.1:n.282+1G>A
ENST00000639713.1:c.207+1G>A (GOSR2) ENSP00000491100.1:n.207+1G>A
ENST00000639822.1:n.369+1G>A
ENST00000639985.1:c.336+1G>A (GOSR2) ENSP00000492396.1:n.336+1G>A
ENST00000640007.1:c.331G>A (GOSR2) ENSP00000491709.1:p.Val111Ile
ENST00000640051.2:c.336+1G>A (GOSR2) MANE Select ENSP00000492751.1:n.336+1G>A
ENST00000640068.1:c.282+1G>A (GOSR2) ENSP00000491682.1:n.282+1G>A
ENST00000640138.1:c.-22+1G>A (GOSR2) ENSP00000492565.1:n.-22+1G>A
ENST00000640269.1:c.282+1G>A (GOSR2) ENSP00000492146.1:n.282+1G>A
ENST00000640358.1:c.336+1G>A (GOSR2) ENSP00000491135.1:n.336+1G>A
ENST00000640443.1:c.282+1G>A (GOSR2) ENSP00000492548.1:n.282+1G>A
ENST00000640495.1:c.-22+2616G>A (GOSR2) ENSP00000491859.1:n.-22+2616G>A
ENST00000640608.1:c.336+1G>A (GOSR2) ENSP00000491979.1:n.336+1G>A
ENST00000640621.1:c.336+1G>A (GOSR2) ENSP00000492830.1:n.336+1G>A
ENST00000640709.1:n.1251G>A (GOSR2)
ENST00000640711.1:c.143+2616G>A (GOSR2) ENSP00000491361.1:n.143+2616G>A
ENST00000640723.1:c.275+1G>A (GOSR2)
ENST00000640792.1:c.336+1G>A (GOSR2) ENSP00000492736.1:n.336+1G>A
ENST00000640806.1:c.345+1G>A (GOSR2) ENSP00000491432.1:n.345+1G>A
ENST00000640871.1:c.18+1G>A (GOSR2) ENSP00000492275.1:n.18+1G>A
ENST00000225567.8:c.336+1G>A (GOSR2) ENSP00000225567.4:n.336+1G>A
ENST00000393456.6:c.336+1G>A (GOSR2) ENSP00000377101.2:n.336+1G>A
ENST00000415811.6:c.336+1G>A (GOSR2) ENSP00000394559.2:n.336+1G>A
ENST00000570879.1:c.329+1G>A (GOSR2)
ENST00000571048.1:n.775G>A (GOSR2)
ENST00000571841.1:c.336+1G>A ENSP00000461460.1:n.336+1G>A
ENST00000572403.5:c.282+1G>A (GOSR2) ENSP00000460760.1:n.282+1G>A
ENST00000575949.5:c.337G>A (GOSR2) ENSP00000458911.1:p.Val113Ile
ENST00000576910.6:c.336+1G>A (GOSR2) ENSP00000461673.1:n.336+1G>A
NM_001012511.1:c.336+1G>A (GOSR2) NP_001012529.1:n.336+1G>A
NM_004287.3:c.336+1G>A (GOSR2) NP_004278.2:n.336+1G>A
NM_054022.2:c.336+1G>A (GOSR2) NP_473363.1:n.336+1G>A
XM_005257843.2:c.336+1G>A (GOSR2) XP_005257900.1:n.336+1G>A
XM_005257844.2:c.336+1G>A (GOSR2) XP_005257901.1:n.336+1G>A
XM_005257845.2:c.282+1G>A (GOSR2) XP_005257902.1:n.282+1G>A
XM_006722190.2:c.336+1G>A (GOSR2) XP_006722253.1:n.336+1G>A
XM_011525497.1:c.336+1G>A (GOSR2) XP_011523799.1:n.336+1G>A
XM_011525498.1:c.282+1G>A (GOSR2) XP_011523800.1:n.282+1G>A
XM_011525499.1:c.336+1G>A (GOSR2) XP_011523801.1:n.336+1G>A
XM_011525500.1:c.336+1G>A (GOSR2) XP_011523802.1:n.336+1G>A
XM_011525501.1:c.336+1G>A (GOSR2) XP_011523803.1:n.336+1G>A
XM_011525502.1:c.336+1G>A (GOSR2) XP_011523804.1:n.336+1G>A
XM_011525503.1:c.336+1G>A (GOSR2) XP_011523805.1:n.336+1G>A
XR_934613.1:n.415+1G>A (GOSR2)
XR_934614.1:n.415+1G>A (GOSR2)
XR_934615.1:n.415+1G>A (GOSR2)
XR_934616.1:n.415+1G>A (GOSR2)
XR_934617.1:n.415+1G>A (GOSR2)
XR_934618.1:n.415+1G>A (GOSR2)
XR_934619.1:n.415+1G>A (GOSR2)
XR_934620.1:n.415+1G>A (GOSR2)
XR_934621.1:n.769+1G>A (GOSR2)
NM_001012511.2:c.336+1G>A (GOSR2) NP_001012529.1:n.336+1G>A
NM_001321133.1:c.336+1G>A (GOSR2) NP_001308062.1:n.336+1G>A
NM_001321134.1:c.282+1G>A (GOSR2) NP_001308063.1:n.282+1G>A
NM_001330252.1:c.336+1G>A (GOSR2) NP_001317181.1:n.336+1G>A
NM_001353114.1:c.333+1G>A (GOSR2) NP_001340043.1:n.333+1G>A
NM_001353115.1:c.333+1G>A (GOSR2) NP_001340044.1:n.333+1G>A
NM_001353116.1:c.333+1G>A (GOSR2) NP_001340045.1:n.333+1G>A
NM_001363851.1:c.282+1G>A (GOSR2) NP_001350780.1:n.282+1G>A
NM_004287.4:c.336+1G>A (GOSR2) NP_004278.2:n.336+1G>A
NM_054022.3:c.336+1G>A (GOSR2) NP_473363.1:n.336+1G>A
NR_148349.1:n.412+1G>A (GOSR2)
NR_148350.1:n.412+1G>A (GOSR2)
NR_148351.1:n.412+1G>A (GOSR2)
XM_006722190.4:c.336+1G>A (GOSR2) XP_006722253.1:n.336+1G>A
XM_011525501.3:c.336+1G>A (GOSR2) XP_011523803.1:n.336+1G>A
XM_011525502.3:c.336+1G>A (GOSR2) XP_011523804.1:n.336+1G>A
XM_017025378.1:c.333+1G>A (GOSR2) XP_016880867.1:n.333+1G>A
XM_017025379.1:c.282+1G>A (GOSR2) XP_016880868.1:n.282+1G>A
XM_017025380.1:c.282+1G>A (GOSR2) XP_016880869.1:n.282+1G>A
XM_017025381.1:c.279+1G>A (GOSR2) XP_016880870.1:n.279+1G>A
XM_017025382.1:c.279+1G>A (GOSR2) XP_016880871.1:n.279+1G>A
XM_017025383.2:c.336+1G>A (GOSR2) XP_016880872.1:n.336+1G>A
XM_017025386.1:c.336+1G>A (GOSR2) XP_016880875.1:n.336+1G>A
XM_017025387.1:c.333+1G>A (GOSR2) XP_016880876.1:n.333+1G>A
XM_017025389.1:c.282+1G>A (GOSR2) XP_016880878.1:n.282+1G>A
XM_017025392.1:c.336+1G>A (GOSR2) XP_016880881.1:n.336+1G>A
XM_017025394.1:c.282+1G>A (GOSR2) XP_016880883.1:n.282+1G>A
XM_017025395.1:c.282+1G>A (GOSR2) XP_016880884.1:n.282+1G>A
XM_024450773.1:c.4810-116856G>A (LRRC37A2) XP_024306541.1:n.4810-116856G>A
XR_001752696.2:n.396+1G>A (GOSR2)
XR_002958091.1:n.396+1G>A (GOSR2)
XR_002958092.1:n.396+1G>A (GOSR2)
XR_002958093.1:n.771+1G>A (GOSR2)
XR_934616.3:n.396+1G>A (GOSR2)
XR_934619.3:n.396+1G>A (GOSR2)
NM_001321133.2:c.336+1G>A (GOSR2) NP_001308062.1:n.336+1G>A
NM_001353116.2:c.333+1G>A (GOSR2) NP_001340045.1:n.333+1G>A
NM_004287.5:c.336+1G>A (GOSR2) MANE Select NP_004278.2:n.336+1G>A
NM_054022.4:c.336+1G>A (GOSR2) NP_473363.1:n.336+1G>A
NR_148349.2:n.369+1G>A (GOSR2)
NR_148350.2:n.369+1G>A (GOSR2)
NR_148351.2:n.369+1G>A (GOSR2)
NM_001012511.3:c.336+1G>A (GOSR2) NP_001012529.1:n.336+1G>A
NM_001321134.2:c.282+1G>A (GOSR2) NP_001308063.1:n.282+1G>A
NM_001330252.2:c.336+1G>A (GOSR2) NP_001317181.1:n.336+1G>A
NM_001353114.2:c.333+1G>A (GOSR2) NP_001340043.1:n.333+1G>A
NM_001353115.2:c.333+1G>A (GOSR2) NP_001340044.1:n.333+1G>A
NM_001363851.2:c.282+1G>A (GOSR2) NP_001350780.1:n.282+1G>A
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