Canonical Allele Identifier: CA368224702

Gene: COL1A2

Linked Data

• COSMIC: COSM219176
• MyVariant Identifiers: chr7:g.94054968G>T (hg19) ; chr7:g.94425656G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94425656G>T , CM000669.2:g.94425656G>T	GRCh38
NC_000007.13:g.94054968G>T , CM000669.1:g.94054968G>T	GRCh37
NC_000007.12:g.93892904G>T	NCBI36
NG_007405.1:g.36096G>T , LRG_2:g.36096G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2828G>T MANE Select	ENSP00000297268.6:p.Gly943Val
ENST00000297268.10:c.2828G>T	ENSP00000297268.6:p.Gly943Val
ENST00000469732.1:n.611G>T
ENST00000478215.1:n.387G>T
ENST00000481570.5:n.2801G>T
ENST00000620463.1:c.2822G>T	ENSP00000477719.1:p.Gly941Val
NM_000089.3:c.2828G>T , LRG_2t1:c.2828G>T	NP_000080.2:p.Gly943Val
NM_000089.4:c.2828G>T MANE Select	NP_000080.2:p.Gly943Val