Canonical Allele Identifier: CA2715125182

Gene: COL1A2

Linked Data

• dbSNP Id: rs2115876033

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404812G>C , CM000669.2:g.94404812G>C	GRCh38
NC_000007.13:g.94034124G>C , CM000669.1:g.94034124G>C	GRCh37
NC_000007.12:g.93872060G>C	NCBI36
NG_007405.1:g.15252G>C , LRG_2:g.15252G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.379-27G>C MANE Select	ENSP00000297268.6:n.379-27G>C
ENST00000297268.10:c.379-27G>C	ENSP00000297268.6:n.379-27G>C
ENST00000620463.1:c.373-27G>C	ENSP00000477719.1:n.373-27G>C
NM_000089.3:c.379-27G>C , LRG_2t1:c.379-27G>C	NP_000080.2:n.379-27G>C
NM_000089.4:c.379-27G>C MANE Select	NP_000080.2:n.379-27G>C