Canonical Allele Identifier: CA2578942246

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426607T>A , CM000669.2:g.94426607T>A	GRCh38
NC_000007.13:g.94055919T>A , CM000669.1:g.94055919T>A	GRCh37
NC_000007.12:g.93893855T>A	NCBI36
NG_007405.1:g.37047T>A , LRG_2:g.37047T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+77T>A MANE Select	ENSP00000297268.6:n.3105+77T>A
ENST00000297268.10:c.3105+77T>A	ENSP00000297268.6:n.3105+77T>A
ENST00000478215.1:n.741T>A
ENST00000481570.5:n.3155T>A
ENST00000488121.1:n.21+77T>A
ENST00000620463.1:c.3099+77T>A	ENSP00000477719.1:n.3099+77T>A
NM_000089.3:c.3105+77T>A , LRG_2t1:c.3105+77T>A	NP_000080.2:n.3105+77T>A
NM_000089.4:c.3105+77T>A MANE Select	NP_000080.2:n.3105+77T>A