Canonical Allele Identifier: CA368222917

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94417805-G-T
• COSMIC: COSM5010034
• MyVariant Identifiers: chr7:g.94047117G>T (hg19) ; chr7:g.94417805G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.1945G>T MANE Select	ENSP00000297268.6:p.Gly649Cys
ENST00000297268.10:c.1945G>T	ENSP00000297268.6:p.Gly649Cys
ENST00000461525.5:n.34G>T
ENST00000473573.5:n.282G>T
ENST00000497316.5:n.342G>T
ENST00000620463.1:c.1939G>T	ENSP00000477719.1:p.Gly647Cys
NM_000089.3:c.1945G>T , LRG_2t1:c.1945G>T	NP_000080.2:p.Gly649Cys
NM_000089.4:c.1945G>T MANE Select	NP_000080.2:p.Gly649Cys