Canonical Allele Identifier: CA1726763213

Gene: COL1A2

Linked Data

• dbSNP Id: rs1792012393

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94415156A>C , CM000669.2:g.94415156A>C	GRCh38
NC_000007.13:g.94044468A>C , CM000669.1:g.94044468A>C	GRCh37
NC_000007.12:g.93882404A>C	NCBI36
NG_007405.1:g.25596A>C , LRG_2:g.25596A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.1720-70A>C MANE Select	ENSP00000297268.6:n.1720-70A>C
ENST00000297268.10:c.1720-70A>C	ENSP00000297268.6:n.1720-70A>C
ENST00000473573.5:n.57-70A>C
ENST00000488298.5:n.144-70A>C
ENST00000620463.1:c.1714-70A>C	ENSP00000477719.1:n.1714-70A>C
NM_000089.3:c.1720-70A>C , LRG_2t1:c.1720-70A>C	NP_000080.2:n.1720-70A>C
NM_000089.4:c.1720-70A>C MANE Select	NP_000080.2:n.1720-70A>C