Canonical Allele Identifier: CA2683768126

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94409198-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94409198G>C , CM000669.2:g.94409198G>C	GRCh38
NC_000007.13:g.94038510G>C , CM000669.1:g.94038510G>C	GRCh37
NC_000007.12:g.93876446G>C	NCBI36
NG_007405.1:g.19638G>C , LRG_2:g.19638G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.793-124G>C MANE Select	ENSP00000297268.6:n.793-124G>C
ENST00000297268.10:c.793-124G>C	ENSP00000297268.6:n.793-124G>C
ENST00000620463.1:c.787-124G>C	ENSP00000477719.1:n.787-124G>C
NM_000089.3:c.793-124G>C , LRG_2t1:c.793-124G>C	NP_000080.2:n.793-124G>C
NM_000089.4:c.793-124G>C MANE Select	NP_000080.2:n.793-124G>C