Canonical Allele Identifier: CA1726782847

Gene: COL1A2

Linked Data

• dbSNP Id: rs1792274497

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426204A>G , CM000669.2:g.94426204A>G	GRCh38
NC_000007.13:g.94055516A>G , CM000669.1:g.94055516A>G	GRCh37
NC_000007.12:g.93893452A>G	NCBI36
NG_007405.1:g.36644A>G , LRG_2:g.36644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2997+153A>G MANE Select	ENSP00000297268.6:n.2997+153A>G
ENST00000297268.10:c.2997+153A>G	ENSP00000297268.6:n.2997+153A>G
ENST00000478215.1:n.556+153A>G
ENST00000481570.5:n.2970+153A>G
ENST00000620463.1:c.2991+153A>G	ENSP00000477719.1:n.2991+153A>G
NM_000089.3:c.2997+153A>G , LRG_2t1:c.2997+153A>G	NP_000080.2:n.2997+153A>G
NM_000089.4:c.2997+153A>G MANE Select	NP_000080.2:n.2997+153A>G