Canonical Allele Identifier: CA1104599250

Gene: COL1A2

Linked Data

• dbSNP Id: rs1792275572
• gnomAD v3: 7-94426251-A-G
• gnomAD v4: 7-94426251-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426251A>G , CM000669.2:g.94426251A>G	GRCh38
NC_000007.13:g.94055563A>G , CM000669.1:g.94055563A>G	GRCh37
NC_000007.12:g.93893499A>G	NCBI36
NG_007405.1:g.36691A>G , LRG_2:g.36691A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2998-172A>G MANE Select	ENSP00000297268.6:n.2998-172A>G
ENST00000297268.10:c.2998-172A>G	ENSP00000297268.6:n.2998-172A>G
ENST00000478215.1:n.557-172A>G
ENST00000481570.5:n.2971-172A>G
ENST00000620463.1:c.2992-172A>G	ENSP00000477719.1:n.2992-172A>G
NM_000089.3:c.2998-172A>G , LRG_2t1:c.2998-172A>G	NP_000080.2:n.2998-172A>G
NM_000089.4:c.2998-172A>G MANE Select	NP_000080.2:n.2998-172A>G