Canonical Allele Identifier: CA400018959

Gene: GOSR2 LRRC37A2

Linked Data

• ClinVar Variation Id: 1371686
• ClinVar RCV Id: RCV001879116
• dbSNP Id: rs2088814830
• MyVariant Identifiers: chr17:g.45015993C>G (hg19) ; chr17:g.46938627C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46938627C>G , CM000679.2:g.46938627C>G	GRCh38
NC_000017.10:g.45015993C>G , CM000679.1:g.45015993C>G	GRCh37
NC_000017.9:g.42370992C>G	NCBI36
NG_031806.1:g.20508C>G
NG_031806.2:g.20508C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225567.9:c.506C>G (GOSR2)	ENSP00000225567.4:p.Ala169Gly
ENST00000393456.7:c.311C>G (GOSR2)	ENSP00000377101.3:p.Ala104Gly
ENST00000573224.2:c.506C>G (GOSR2)	ENSP00000461784.2:p.Ala169Gly
ENST00000576910.7:c.500C>G (GOSR2)	ENSP00000461673.2:p.Ala167Gly
ENST00000623037.2:c.562C>G (GOSR2)	ENSP00000492669.1:p.Pro188Ala
ENST00000638189.1:c.506C>G (GOSR2)	ENSP00000491785.1:p.Ala169Gly
ENST00000638216.1:c.452C>G (GOSR2)	ENSP00000491961.1:p.Ala151Gly
ENST00000638219.1:c.506C>G (GOSR2)	ENSP00000491399.1:p.Ala169Gly
ENST00000638374.1:c.149C>G (GOSR2)	ENSP00000492139.1:p.Ala50Gly
ENST00000638468.1:c.259C>G (GOSR2)
ENST00000638579.1:c.506C>G (GOSR2)	ENSP00000491266.1:p.Ala169Gly
ENST00000638634.1:c.362C>G (GOSR2)	ENSP00000491946.1:p.Ala121Gly
ENST00000638697.1:c.365C>G (GOSR2)	ENSP00000492360.1:p.Ala122Gly
ENST00000638838.1:c.503C>G (GOSR2)	ENSP00000492524.1:p.Ala168Gly
ENST00000638892.1:c.-5C>G (GOSR2)	ENSP00000492607.1:n.-5C>G
ENST00000639066.1:n.398C>G (GOSR2)
ENST00000639199.1:c.365C>G (GOSR2)	ENSP00000491396.1:p.Ala122Gly
ENST00000639365.1:c.506C>G (GOSR2)	ENSP00000491253.1:p.Ala169Gly
ENST00000639388.1:c.452C>G (GOSR2)	ENSP00000492544.1:p.Ala151Gly
ENST00000639713.1:c.377C>G (GOSR2)	ENSP00000491100.1:p.Ala126Gly
ENST00000639822.1:n.398C>G
ENST00000639985.1:c.365C>G (GOSR2)	ENSP00000492396.1:p.Ala122Gly
ENST00000640051.2:c.506C>G (GOSR2) MANE Select	ENSP00000492751.1:p.Ala169Gly
ENST00000640068.1:c.311C>G (GOSR2)	ENSP00000491682.1:p.Ala104Gly
ENST00000640138.1:c.149C>G (GOSR2)	ENSP00000492565.1:p.Ala50Gly
ENST00000640358.1:c.506C>G (GOSR2)	ENSP00000491135.1:p.Ala169Gly
ENST00000640443.1:c.452C>G (GOSR2)	ENSP00000492548.1:p.Ala151Gly
ENST00000640495.1:c.149C>G (GOSR2)	ENSP00000491859.1:p.Ala50Gly
ENST00000640608.1:c.365C>G (GOSR2)	ENSP00000491979.1:p.Ala122Gly
ENST00000640711.1:c.172C>G (GOSR2)	ENSP00000491361.1:p.Pro58Ala
ENST00000640723.1:c.445C>G (GOSR2)
ENST00000640792.1:c.506C>G (GOSR2)	ENSP00000492736.1:p.Ala169Gly
ENST00000640866.1:c.23C>G (GOSR2)	ENSP00000491863.1:p.Ala8Gly
ENST00000640871.1:c.306C>G (GOSR2)	ENSP00000492275.1:n.306C>G
ENST00000225567.8:c.506C>G (GOSR2)	ENSP00000225567.4:p.Ala169Gly
ENST00000393456.6:c.506C>G (GOSR2)	ENSP00000377101.2:p.Ala169Gly
ENST00000570879.1:c.499C>G (GOSR2)
ENST00000571841.1:c.506C>G	ENSP00000461460.1:p.Ala169Gly
ENST00000572403.5:c.311C>G (GOSR2)	ENSP00000460760.1:p.Ala104Gly
ENST00000573224.1:c.29C>G (GOSR2)	ENSP00000461784.1:p.Ala10Gly
ENST00000576910.6:c.365C>G (GOSR2)	ENSP00000461673.1:p.Ala122Gly
NM_004287.3:c.506C>G (GOSR2)	NP_004278.2:p.Ala169Gly
NM_054022.2:c.506C>G (GOSR2)	NP_473363.1:p.Ala169Gly
XM_005257843.2:c.506C>G (GOSR2)	XP_005257900.1:p.Ala169Gly
XM_005257844.2:c.365C>G (GOSR2)	XP_005257901.1:p.Ala122Gly
XM_005257845.2:c.311C>G (GOSR2)	XP_005257902.1:p.Ala104Gly
XM_006722190.2:c.506C>G (GOSR2)	XP_006722253.1:p.Ala169Gly
XM_011525497.1:c.506C>G (GOSR2)	XP_011523799.1:p.Ala169Gly
XM_011525498.1:c.452C>G (GOSR2)	XP_011523800.1:p.Ala151Gly
XM_011525499.1:c.365C>G (GOSR2)	XP_011523801.1:p.Ala122Gly
XM_011525500.1:c.506C>G (GOSR2)	XP_011523802.1:p.Ala169Gly
XM_011525501.1:c.506C>G (GOSR2)	XP_011523803.1:p.Ala169Gly
XM_011525502.1:c.506C>G (GOSR2)	XP_011523804.1:p.Ala169Gly
XM_011525503.1:c.365C>G (GOSR2)	XP_011523805.1:p.Ala122Gly
XR_934613.1:n.585C>G (GOSR2)
XR_934614.1:n.585C>G (GOSR2)
XR_934615.1:n.585C>G (GOSR2)
XR_934616.1:n.585C>G (GOSR2)
XR_934617.1:n.585C>G (GOSR2)
XR_934618.1:n.585C>G (GOSR2)
XR_934619.1:n.585C>G (GOSR2)
XR_934620.1:n.585C>G (GOSR2)
XR_934621.1:n.798C>G (GOSR2)
NM_001321133.1:c.506C>G (GOSR2)	NP_001308062.1:p.Ala169Gly
NM_001321134.1:c.311C>G (GOSR2)	NP_001308063.1:p.Ala104Gly
NM_001330252.1:c.365C>G (GOSR2)	NP_001317181.1:p.Ala122Gly
NM_001353114.1:c.503C>G (GOSR2)	NP_001340043.1:p.Ala168Gly
NM_001353115.1:c.362C>G (GOSR2)	NP_001340044.1:p.Ala121Gly
NM_001353116.1:c.362C>G (GOSR2)	NP_001340045.1:p.Ala121Gly
NM_001363851.1:c.452C>G (GOSR2)	NP_001350780.1:p.Ala151Gly
NM_004287.4:c.506C>G (GOSR2)	NP_004278.2:p.Ala169Gly
NM_054022.3:c.506C>G (GOSR2)	NP_473363.1:p.Ala169Gly
NR_148349.1:n.582C>G (GOSR2)
NR_148350.1:n.441C>G (GOSR2)
NR_148351.1:n.441C>G (GOSR2)
XM_006722190.4:c.506C>G (GOSR2)	XP_006722253.1:p.Ala169Gly
XM_011525501.3:c.506C>G (GOSR2)	XP_011523803.1:p.Ala169Gly
XM_011525502.3:c.506C>G (GOSR2)	XP_011523804.1:p.Ala169Gly
XM_017025378.1:c.503C>G (GOSR2)	XP_016880867.1:p.Ala168Gly
XM_017025379.1:c.452C>G (GOSR2)	XP_016880868.1:p.Ala151Gly
XM_017025380.1:c.452C>G (GOSR2)	XP_016880869.1:p.Ala151Gly
XM_017025381.1:c.449C>G (GOSR2)	XP_016880870.1:p.Ala150Gly
XM_017025382.1:c.449C>G (GOSR2)	XP_016880871.1:p.Ala150Gly
XM_017025383.2:c.506C>G (GOSR2)	XP_016880872.1:p.Ala169Gly
XM_017025386.1:c.365C>G (GOSR2)	XP_016880875.1:p.Ala122Gly
XM_017025387.1:c.362C>G (GOSR2)	XP_016880876.1:p.Ala121Gly
XM_017025389.1:c.452C>G (GOSR2)	XP_016880878.1:p.Ala151Gly
XM_017025392.1:c.365C>G (GOSR2)	XP_016880881.1:p.Ala122Gly
XM_017025394.1:c.311C>G (GOSR2)	XP_016880883.1:p.Ala104Gly
XM_017025395.1:c.311C>G (GOSR2)	XP_016880884.1:p.Ala104Gly
XM_024450773.1:c.4810-110429C>G (LRRC37A2)	XP_024306541.1:n.4810-110429C>G
XR_001752696.2:n.566C>G (GOSR2)
XR_002958091.1:n.566C>G (GOSR2)
XR_002958092.1:n.566C>G (GOSR2)
XR_002958093.1:n.941C>G (GOSR2)
XR_934616.3:n.566C>G (GOSR2)
XR_934619.3:n.566C>G (GOSR2)
NM_001321133.2:c.506C>G (GOSR2)	NP_001308062.1:p.Ala169Gly
NM_001353116.2:c.362C>G (GOSR2)	NP_001340045.1:p.Ala121Gly
NM_004287.5:c.506C>G (GOSR2) MANE Select	NP_004278.2:p.Ala169Gly
NM_054022.4:c.506C>G (GOSR2)	NP_473363.1:p.Ala169Gly
NR_148349.2:n.539C>G (GOSR2)
NR_148350.2:n.398C>G (GOSR2)
NR_148351.2:n.398C>G (GOSR2)
NM_001321134.2:c.311C>G (GOSR2)	NP_001308063.1:p.Ala104Gly
NM_001330252.2:c.365C>G (GOSR2)	NP_001317181.1:p.Ala122Gly
NM_001353114.2:c.503C>G (GOSR2)	NP_001340043.1:p.Ala168Gly
NM_001353115.2:c.362C>G (GOSR2)	NP_001340044.1:p.Ala121Gly
NM_001363851.2:c.452C>G (GOSR2)	NP_001350780.1:p.Ala151Gly