Canonical Allele Identifier: CA162938960

Gene: COL1A2

Linked Data

• dbSNP Id: rs370621459
• gnomAD v4: 7-94424460-A-T
• MyVariant Identifiers: chr7:g.94053772A>T (hg19) ; chr7:g.94424460A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94424460A>T , CM000669.2:g.94424460A>T	GRCh38
NC_000007.13:g.94053772A>T , CM000669.1:g.94053772A>T	GRCh37
NC_000007.12:g.93891708A>T	NCBI36
NG_007405.1:g.34900A>T , LRG_2:g.34900A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.2673+17A>T MANE Select	ENSP00000297268.6:n.2673+17A>T
ENST00000297268.10:c.2673+17A>T	ENSP00000297268.6:n.2673+17A>T
ENST00000469732.1:n.456+17A>T
ENST00000481570.5:n.1990A>T
ENST00000620463.1:c.2667+17A>T	ENSP00000477719.1:n.2667+17A>T
NM_000089.3:c.2673+17A>T , LRG_2t1:c.2673+17A>T	NP_000080.2:n.2673+17A>T
NM_000089.4:c.2673+17A>T MANE Select	NP_000080.2:n.2673+17A>T