Canonical Allele Identifier: CA1726792214

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404743A= , CM000669.2:g.94404743A=	GRCh38
NC_000007.13:g.94034055A= , CM000669.1:g.94034055A=	GRCh37
NC_000007.12:g.93871991A=	NCBI36
NG_007405.1:g.15183A= , LRG_2:g.15183A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.375A= MANE Select	ENSP00000297268.6:p.Gln125=
ENST00000297268.10:c.375A=	ENSP00000297268.6:p.Gln125=
ENST00000620463.1:c.369A=	ENSP00000477719.1:p.Gln123=
NM_000089.3:c.375A= , LRG_2t1:c.375A=	NP_000080.2:p.Gln125=
NM_000089.4:c.375A= MANE Select	NP_000080.2:p.Gln125=