Canonical Allele Identifier: CA1726783117

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426429C= , CM000669.2:g.94426429C=	GRCh38
NC_000007.13:g.94055741C= , CM000669.1:g.94055741C=	GRCh37
NC_000007.12:g.93893677C=	NCBI36
NG_007405.1:g.36869C= , LRG_2:g.36869C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3004C= MANE Select	ENSP00000297268.6:p.Gln1002=
ENST00000297268.10:c.3004C=	ENSP00000297268.6:p.Gln1002=
ENST00000478215.1:n.563C=
ENST00000481570.5:n.2977C=
ENST00000620463.1:c.2998C=	ENSP00000477719.1:p.Gln1000=
NM_000089.3:c.3004C= , LRG_2t1:c.3004C=	NP_000080.2:p.Gln1002=
NM_000089.4:c.3004C= MANE Select	NP_000080.2:p.Gln1002=