Canonical Allele Identifier: CA1726783441

Gene: COL1A2

Linked Data

• dbSNP Id: rs1792282484

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426588A>C , CM000669.2:g.94426588A>C	GRCh38
NC_000007.13:g.94055900A>C , CM000669.1:g.94055900A>C	GRCh37
NC_000007.12:g.93893836A>C	NCBI36
NG_007405.1:g.37028A>C , LRG_2:g.37028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+58A>C MANE Select	ENSP00000297268.6:n.3105+58A>C
ENST00000297268.10:c.3105+58A>C	ENSP00000297268.6:n.3105+58A>C
ENST00000478215.1:n.722A>C
ENST00000481570.5:n.3136A>C
ENST00000488121.1:n.21+58A>C
ENST00000620463.1:c.3099+58A>C	ENSP00000477719.1:n.3099+58A>C
NM_000089.3:c.3105+58A>C , LRG_2t1:c.3105+58A>C	NP_000080.2:n.3105+58A>C
NM_000089.4:c.3105+58A>C MANE Select	NP_000080.2:n.3105+58A>C