Canonical Allele Identifier: CA456490379

Gene: COL1A2

Linked Data

• MyVariant Identifiers: chr7:g.94055828C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426516C>T , CM000669.2:g.94426516C>T	GRCh38
NC_000007.13:g.94055828C>T , CM000669.1:g.94055828C>T	GRCh37
NC_000007.12:g.93893764C>T	NCBI36
NG_007405.1:g.36956C>T , LRG_2:g.36956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3091C>T MANE Select	ENSP00000297268.6:p.Leu1031=
ENST00000297268.10:c.3091C>T	ENSP00000297268.6:p.Leu1031=
ENST00000478215.1:n.650C>T
ENST00000481570.5:n.3064C>T
ENST00000488121.1:n.7C>T
ENST00000620463.1:c.3085C>T	ENSP00000477719.1:p.Leu1029=
NM_000089.3:c.3091C>T , LRG_2t1:c.3091C>T	NP_000080.2:p.Leu1031=
NM_000089.4:c.3091C>T MANE Select	NP_000080.2:p.Leu1031=