Canonical Allele Identifier: CA2683768137

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94409215-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94409215C>G , CM000669.2:g.94409215C>G	GRCh38
NC_000007.13:g.94038527C>G , CM000669.1:g.94038527C>G	GRCh37
NC_000007.12:g.93876463C>G	NCBI36
NG_007405.1:g.19655C>G , LRG_2:g.19655C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.793-107C>G MANE Select	ENSP00000297268.6:n.793-107C>G
ENST00000297268.10:c.793-107C>G	ENSP00000297268.6:n.793-107C>G
ENST00000620463.1:c.787-107C>G	ENSP00000477719.1:n.787-107C>G
NM_000089.3:c.793-107C>G , LRG_2t1:c.793-107C>G	NP_000080.2:n.793-107C>G
NM_000089.4:c.793-107C>G MANE Select	NP_000080.2:n.793-107C>G