Canonical Allele Identifier: CA162908760

Gene: COL1A2

Linked Data

• dbSNP Id: rs745596805
• gnomAD v2: 7-94031005-G-A
• gnomAD v3: 7-94401693-G-A
• gnomAD v4: 7-94401693-G-A
• MyVariant Identifiers: chr7:g.94031005G>A (hg19) ; chr7:g.94031005_94031006delinsAC (hg19) ; chr7:g.94401693G>A (hg38) ; chr7:g.94401693_94401694delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401693G>A , CM000669.2:g.94401693G>A	GRCh38
NC_000007.13:g.94031005G>A , CM000669.1:g.94031005G>A	GRCh37
NC_000007.12:g.93868941G>A	NCBI36
NG_007405.1:g.12133G>A , LRG_2:g.12133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+73G>A MANE Select	ENSP00000297268.6:n.279+73G>A
ENST00000297268.10:c.279+73G>A	ENSP00000297268.6:n.279+73G>A
ENST00000620463.1:c.273+73G>A	ENSP00000477719.1:n.273+73G>A
NM_000089.3:c.279+73G>A , LRG_2t1:c.279+73G>A	NP_000080.2:n.279+73G>A
NM_000089.4:c.279+73G>A MANE Select	NP_000080.2:n.279+73G>A