Canonical Allele Identifier: CA384521880

Gene: COL2A1

Linked Data

• dbSNP Id: rs768643056
• gnomAD v2: 12-48387605-G-A
• gnomAD v4: 12-47993822-G-A
• MyVariant Identifiers: chr12:g.48387605G>A (hg19) ; chr12:g.47993822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993822G>A , CM000674.2:g.47993822G>A	GRCh38
NC_000012.11:g.48387605G>A , CM000674.1:g.48387605G>A	GRCh37
NC_000012.10:g.46673872G>A	NCBI36
NG_008072.1:g.15681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.704C>T	ENSP00000338213.6:p.Ala235Val
ENST00000380518.8:c.911C>T MANE Select	ENSP00000369889.3:p.Ala304Val
ENST00000337299.6:c.704C>T	ENSP00000338213.6:p.Ala235Val
ENST00000380518.7:c.911C>T	ENSP00000369889.3:p.Ala304Val
NM_001844.4:c.911C>T	NP_001835.3:p.Ala304Val
NM_033150.2:c.704C>T	NP_149162.2:p.Ala235Val
XM_006719242.2:c.1055C>T	XP_006719305.2:p.Ala352Val
XM_011537928.1:c.1055C>T	XP_011536230.1:p.Ala352Val
XM_011537929.1:c.1055C>T	XP_011536231.1:p.Ala352Val
XM_011537930.1:c.1055C>T	XP_011536232.1:p.Ala352Val
XM_011537931.1:c.1055C>T	XP_011536233.1:p.Ala352Val
XM_011537932.1:c.1055C>T	XP_011536234.1:p.Ala352Val
XM_011537933.1:c.1055C>T	XP_011536235.1:p.Ala352Val
XM_011537934.1:c.1052C>T	XP_011536236.1:p.Ala351Val
XM_017018828.1:c.1055C>T	XP_016874317.1:p.Ala352Val
XM_017018829.1:c.1052C>T	XP_016874318.1:p.Ala351Val
XM_017018830.1:c.845C>T	XP_016874319.1:p.Ala282Val
XM_017018831.2:c.365C>T	XP_016874320.1:p.Ala122Val
NM_001844.5:c.911C>T MANE Select	NP_001835.3:p.Ala304Val
NM_033150.3:c.704C>T	NP_149162.2:p.Ala235Val