Canonical Allele Identifier: CA844003771

Gene: COL1A2

Linked Data

• dbSNP Id: rs1241335140
• gnomAD v3: 7-94426594-T-G
• gnomAD v4: 7-94426594-T-G
• MyVariant Identifiers: chr7:g.94055906T>G (hg19) ; chr7:g.94426594T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426594T>G , CM000669.2:g.94426594T>G	GRCh38
NC_000007.13:g.94055906T>G , CM000669.1:g.94055906T>G	GRCh37
NC_000007.12:g.93893842T>G	NCBI36
NG_007405.1:g.37034T>G , LRG_2:g.37034T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+64T>G MANE Select	ENSP00000297268.6:n.3105+64T>G
ENST00000297268.10:c.3105+64T>G	ENSP00000297268.6:n.3105+64T>G
ENST00000478215.1:n.728T>G
ENST00000481570.5:n.3142T>G
ENST00000488121.1:n.21+64T>G
ENST00000620463.1:c.3099+64T>G	ENSP00000477719.1:n.3099+64T>G
NM_000089.3:c.3105+64T>G , LRG_2t1:c.3105+64T>G	NP_000080.2:n.3105+64T>G
NM_000089.4:c.3105+64T>G MANE Select	NP_000080.2:n.3105+64T>G