Canonical Allele Identifier: CA576321558

Gene: COL1A2

Linked Data

• dbSNP Id: rs1392553996
• gnomAD v2: 7-94034107-A-C
• gnomAD v4: 7-94404795-A-C
• MyVariant Identifiers: chr7:g.94034107A>C (hg19) ; chr7:g.94404795A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404795A>C , CM000669.2:g.94404795A>C	GRCh38
NC_000007.13:g.94034107A>C , CM000669.1:g.94034107A>C	GRCh37
NC_000007.12:g.93872043A>C	NCBI36
NG_007405.1:g.15235A>C , LRG_2:g.15235A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.379-44A>C MANE Select	ENSP00000297268.6:n.379-44A>C
ENST00000297268.10:c.379-44A>C	ENSP00000297268.6:n.379-44A>C
ENST00000620463.1:c.373-44A>C	ENSP00000477719.1:n.373-44A>C
NM_000089.3:c.379-44A>C , LRG_2t1:c.379-44A>C	NP_000080.2:n.379-44A>C
NM_000089.4:c.379-44A>C MANE Select	NP_000080.2:n.379-44A>C