Canonical Allele Identifier: CA291098

Gene: GOSR2 LRRC37A2

Linked Data

• ClinVar Variation Id: 137487
• ClinVar RCV Id: RCV000125250 ; RCV000304282 ; RCV001701609
• dbSNP Id: rs189899
• ExAC: 17:45000529 G / C
• gnomAD v2: 17-45000529-G-C
• gnomAD v3: 17-46923163-G-C
• gnomAD v4: 17-46923163-G-C
• MyVariant Identifiers: chr17:g.45000529G>C (hg19) ; chr17:g.46923163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46923163G>C , CM000679.2:g.46923163G>C	GRCh38
NC_000017.10:g.45000529G>C , CM000679.1:g.45000529G>C	GRCh37
NC_000017.9:g.42355528G>C	NCBI36
NG_031806.1:g.5044G>C
NG_031806.2:g.5044G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225567.9:c.-30G>C (GOSR2)	ENSP00000225567.4:n.-30G>C
ENST00000415811.7:c.-30G>C (GOSR2)	ENSP00000394559.3:n.-30G>C
ENST00000571658.2:n.36G>C (GOSR2)
ENST00000573224.2:c.-30G>C (GOSR2)	ENSP00000461784.2:n.-30G>C
ENST00000575949.6:c.-30G>C (GOSR2)	ENSP00000458911.1:n.-30G>C
ENST00000576910.7:c.-30G>C (GOSR2)	ENSP00000461673.2:n.-30G>C
ENST00000623037.2:c.-30G>C (GOSR2)	ENSP00000492669.1:n.-30G>C
ENST00000638189.1:c.-30G>C (GOSR2)	ENSP00000491785.1:n.-30G>C
ENST00000638216.1:c.-132G>C (GOSR2)	ENSP00000491961.1:n.-132G>C
ENST00000638219.1:c.-30G>C (GOSR2)	ENSP00000491399.1:n.-30G>C
ENST00000638579.1:c.-30G>C (GOSR2)	ENSP00000491266.1:n.-30G>C
ENST00000638634.1:c.-30G>C (GOSR2)	ENSP00000491946.1:n.-30G>C
ENST00000638697.1:c.-30G>C (GOSR2)	ENSP00000492360.1:n.-30G>C
ENST00000638838.1:c.-30G>C (GOSR2)	ENSP00000492524.1:n.-30G>C
ENST00000638892.1:c.-395G>C (GOSR2)	ENSP00000492607.1:n.-395G>C
ENST00000639066.1:n.4G>C (GOSR2)
ENST00000639199.1:c.-30G>C (GOSR2)	ENSP00000491396.1:n.-30G>C
ENST00000639365.1:c.-30G>C (GOSR2)	ENSP00000491253.1:n.-30G>C
ENST00000639388.1:c.-495G>C (GOSR2)	ENSP00000492544.1:n.-495G>C
ENST00000639822.1:n.4G>C
ENST00000639985.1:c.-30G>C (GOSR2)	ENSP00000492396.1:n.-30G>C
ENST00000640007.1:c.-30G>C (GOSR2)	ENSP00000491709.1:n.-30G>C
ENST00000640051.2:c.-30G>C (GOSR2) MANE Select	ENSP00000492751.1:n.-30G>C
ENST00000640269.1:c.-132G>C (GOSR2)	ENSP00000492146.1:n.-132G>C
ENST00000640358.1:c.-30G>C (GOSR2)	ENSP00000491135.1:n.-30G>C
ENST00000640443.1:c.-495G>C (GOSR2)	ENSP00000492548.1:n.-495G>C
ENST00000640495.1:c.-145G>C (GOSR2)	ENSP00000491859.1:n.-145G>C
ENST00000640608.1:c.-30G>C (GOSR2)	ENSP00000491979.1:n.-30G>C
ENST00000640621.1:c.-30G>C (GOSR2)	ENSP00000492830.1:n.-30G>C
ENST00000640709.1:n.26G>C (GOSR2)
ENST00000640711.1:c.-30G>C (GOSR2)	ENSP00000491361.1:n.-30G>C
ENST00000640792.1:c.-30G>C (GOSR2)	ENSP00000492736.1:n.-30G>C
ENST00000640806.1:c.-187G>C (GOSR2)	ENSP00000491432.1:n.-187G>C
ENST00000225567.8:c.-30G>C (GOSR2)	ENSP00000225567.4:n.-30G>C
ENST00000393456.6:c.-30G>C (GOSR2)	ENSP00000377101.2:n.-30G>C
ENST00000415811.6:c.-30G>C (GOSR2)	ENSP00000394559.2:n.-30G>C
ENST00000571658.1:n.26G>C (GOSR2)
ENST00000571841.1:c.-30G>C	ENSP00000461460.1:n.-30G>C
ENST00000575949.5:c.-30G>C (GOSR2)	ENSP00000458911.1:n.-30G>C
ENST00000576910.6:c.-30G>C (GOSR2)	ENSP00000461673.1:n.-30G>C
NM_001012511.1:c.-30G>C (GOSR2)	NP_001012529.1:n.-30G>C
NM_004287.3:c.-30G>C (GOSR2)	NP_004278.2:n.-30G>C
NM_054022.2:c.-30G>C (GOSR2)	NP_473363.1:n.-30G>C
XM_005257843.2:c.-30G>C (GOSR2)	XP_005257900.1:n.-30G>C
XM_005257844.2:c.-30G>C (GOSR2)	XP_005257901.1:n.-30G>C
XM_006722190.2:c.-30G>C (GOSR2)	XP_006722253.1:n.-30G>C
XM_011525497.1:c.-30G>C (GOSR2)	XP_011523799.1:n.-30G>C
XM_011525499.1:c.-30G>C (GOSR2)	XP_011523801.1:n.-30G>C
XM_011525500.1:c.-30G>C (GOSR2)	XP_011523802.1:n.-30G>C
XM_011525501.1:c.-30G>C (GOSR2)	XP_011523803.1:n.-30G>C
XM_011525502.1:c.-30G>C (GOSR2)	XP_011523804.1:n.-30G>C
XM_011525503.1:c.-30G>C (GOSR2)	XP_011523805.1:n.-30G>C
XR_934613.1:n.50G>C (GOSR2)
XR_934614.1:n.50G>C (GOSR2)
XR_934615.1:n.50G>C (GOSR2)
XR_934616.1:n.50G>C (GOSR2)
XR_934617.1:n.50G>C (GOSR2)
XR_934618.1:n.50G>C (GOSR2)
XR_934619.1:n.50G>C (GOSR2)
XR_934620.1:n.50G>C (GOSR2)
NM_001012511.2:c.-30G>C (GOSR2)	NP_001012529.1:n.-30G>C
NM_001321133.1:c.-30G>C (GOSR2)	NP_001308062.1:n.-30G>C
NM_001321134.1:c.-132G>C (GOSR2)	NP_001308063.1:n.-132G>C
NM_001330252.1:c.-30G>C (GOSR2)	NP_001317181.1:n.-30G>C
NM_001353114.1:c.-30G>C (GOSR2)	NP_001340043.1:n.-30G>C
NM_001353115.1:c.-30G>C (GOSR2)	NP_001340044.1:n.-30G>C
NM_001353116.1:c.-30G>C (GOSR2)	NP_001340045.1:n.-30G>C
NM_001363851.1:c.-495G>C (GOSR2)	NP_001350780.1:n.-495G>C
NM_004287.4:c.-30G>C (GOSR2)	NP_004278.2:n.-30G>C
NM_054022.3:c.-30G>C (GOSR2)	NP_473363.1:n.-30G>C
NR_148349.1:n.47G>C (GOSR2)
NR_148350.1:n.47G>C (GOSR2)
NR_148351.1:n.47G>C (GOSR2)
XM_006722190.4:c.-30G>C (GOSR2)	XP_006722253.1:n.-30G>C
XM_011525501.3:c.-30G>C (GOSR2)	XP_011523803.1:n.-30G>C
XM_011525502.3:c.-30G>C (GOSR2)	XP_011523804.1:n.-30G>C
XM_017025378.1:c.-30G>C (GOSR2)	XP_016880867.1:n.-30G>C
XM_017025383.2:c.-30G>C (GOSR2)	XP_016880872.1:n.-30G>C
XM_017025386.1:c.-30G>C (GOSR2)	XP_016880875.1:n.-30G>C
XM_017025387.1:c.-30G>C (GOSR2)	XP_016880876.1:n.-30G>C
XM_017025389.1:c.-132G>C (GOSR2)	XP_016880878.1:n.-132G>C
XM_017025392.1:c.-30G>C (GOSR2)	XP_016880881.1:n.-30G>C
XM_024450773.1:c.4810-125893G>C (LRRC37A2)	XP_024306541.1:n.4810-125893G>C
XR_001752696.2:n.31G>C (GOSR2)
XR_002958091.1:n.31G>C (GOSR2)
XR_002958092.1:n.31G>C (GOSR2)
XR_934616.3:n.31G>C (GOSR2)
XR_934619.3:n.31G>C (GOSR2)
NM_001321133.2:c.-30G>C (GOSR2)	NP_001308062.1:n.-30G>C
NM_001353116.2:c.-30G>C (GOSR2)	NP_001340045.1:n.-30G>C
NM_004287.5:c.-30G>C (GOSR2) MANE Select	NP_004278.2:n.-30G>C
NM_054022.4:c.-30G>C (GOSR2)	NP_473363.1:n.-30G>C
NR_148349.2:n.4G>C (GOSR2)
NR_148350.2:n.4G>C (GOSR2)
NR_148351.2:n.4G>C (GOSR2)
NM_001012511.3:c.-30G>C (GOSR2)	NP_001012529.1:n.-30G>C
NM_001321134.2:c.-132G>C (GOSR2)	NP_001308063.1:n.-132G>C
NM_001330252.2:c.-30G>C (GOSR2)	NP_001317181.1:n.-30G>C
NM_001353114.2:c.-30G>C (GOSR2)	NP_001340043.1:n.-30G>C
NM_001353115.2:c.-30G>C (GOSR2)	NP_001340044.1:n.-30G>C
NM_001363851.2:c.-495G>C (GOSR2)	NP_001350780.1:n.-495G>C