Canonical Allele Identifier: CA384540429

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47977403-C-G
• MyVariant Identifiers: chr12:g.48371186C>G (hg19) ; chr12:g.47977403C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977403C>G , CM000674.2:g.47977403C>G	GRCh38
NC_000012.11:g.48371186C>G , CM000674.1:g.48371186C>G	GRCh37
NC_000012.10:g.46657453C>G	NCBI36
NG_008072.1:g.32100G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2983G>C	ENSP00000338213.6:p.Val995Leu
ENST00000380518.8:c.3190G>C MANE Select	ENSP00000369889.3:p.Val1064Leu
ENST00000337299.6:c.2983G>C	ENSP00000338213.6:p.Val995Leu
ENST00000380518.7:c.3190G>C	ENSP00000369889.3:p.Val1064Leu
ENST00000493991.5:n.2276G>C
ENST00000546974.1:n.43G>C
NM_001844.4:c.3190G>C	NP_001835.3:p.Val1064Leu
NM_033150.2:c.2983G>C	NP_149162.2:p.Val995Leu
XM_006719242.2:c.3334G>C	XP_006719305.2:p.Val1112Leu
XM_011537928.1:c.3334G>C	XP_011536230.1:p.Val1112Leu
XM_011537929.1:c.3334G>C	XP_011536231.1:p.Val1112Leu
XM_011537930.1:c.3334G>C	XP_011536232.1:p.Val1112Leu
XM_011537931.1:c.3334G>C	XP_011536233.1:p.Val1112Leu
XM_011537932.1:c.3334G>C	XP_011536234.1:p.Val1112Leu
XM_011537933.1:c.3334G>C	XP_011536235.1:p.Val1112Leu
XM_011537934.1:c.3331G>C	XP_011536236.1:p.Val1111Leu
XM_011537935.1:c.2278G>C	XP_011536237.1:p.Val760Leu
XM_017018828.1:c.3334G>C	XP_016874317.1:p.Val1112Leu
XM_017018829.1:c.3331G>C	XP_016874318.1:p.Val1111Leu
XM_017018830.1:c.3124G>C	XP_016874319.1:p.Val1042Leu
XM_017018831.2:c.2644G>C	XP_016874320.1:p.Val882Leu
NM_001844.5:c.3190G>C MANE Select	NP_001835.3:p.Val1064Leu
NM_033150.3:c.2983G>C	NP_149162.2:p.Val995Leu