Canonical Allele Identifier: CA368222915

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94417805-G-A
• COSMIC: COSM748482
• MyVariant Identifiers: chr7:g.94047117G>A (hg19) ; chr7:g.94417805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94417805G>A , CM000669.2:g.94417805G>A	GRCh38
NC_000007.13:g.94047117G>A , CM000669.1:g.94047117G>A	GRCh37
NC_000007.12:g.93885053G>A	NCBI36
NG_007405.1:g.28245G>A , LRG_2:g.28245G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.1945G>A MANE Select	ENSP00000297268.6:p.Gly649Ser
ENST00000297268.10:c.1945G>A	ENSP00000297268.6:p.Gly649Ser
ENST00000461525.5:n.34G>A
ENST00000473573.5:n.282G>A
ENST00000497316.5:n.342G>A
ENST00000620463.1:c.1939G>A	ENSP00000477719.1:p.Gly647Ser
NM_000089.3:c.1945G>A , LRG_2t1:c.1945G>A	NP_000080.2:p.Gly649Ser
NM_000089.4:c.1945G>A MANE Select	NP_000080.2:p.Gly649Ser