Canonical Allele Identifier: CA1726783289

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426510C= , CM000669.2:g.94426510C=	GRCh38
NC_000007.13:g.94055822C= , CM000669.1:g.94055822C=	GRCh37
NC_000007.12:g.93893758C=	NCBI36
NG_007405.1:g.36950C= , LRG_2:g.36950C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3085C= MANE Select	ENSP00000297268.6:p.Gln1029=
ENST00000297268.10:c.3085C=	ENSP00000297268.6:p.Gln1029=
ENST00000478215.1:n.644C=
ENST00000481570.5:n.3058C=
ENST00000488121.1:n.1C=
ENST00000620463.1:c.3079C=	ENSP00000477719.1:p.Gln1027=
NM_000089.3:c.3085C= , LRG_2t1:c.3085C=	NP_000080.2:p.Gln1029=
NM_000089.4:c.3085C= MANE Select	NP_000080.2:p.Gln1029=