Canonical Allele Identifier: CA4346625

Gene: COL1A2

Linked Data

• dbSNP Id: rs780252659
• ExAC: 7:94033954 A / G
• gnomAD v2: 7-94033954-A-G
• gnomAD v3: 7-94404642-A-G
• gnomAD v4: 7-94404642-A-G
• MyVariant Identifiers: chr7:g.94033954A>G (hg19) ; chr7:g.94404642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404642A>G , CM000669.2:g.94404642A>G	GRCh38
NC_000007.13:g.94033954A>G , CM000669.1:g.94033954A>G	GRCh37
NC_000007.12:g.93871890A>G	NCBI36
NG_007405.1:g.15082A>G , LRG_2:g.15082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.324+42A>G MANE Select	ENSP00000297268.6:n.324+42A>G
ENST00000297268.10:c.324+42A>G	ENSP00000297268.6:n.324+42A>G
ENST00000620463.1:c.318+42A>G	ENSP00000477719.1:n.318+42A>G
NM_000089.3:c.324+42A>G , LRG_2t1:c.324+42A>G	NP_000080.2:n.324+42A>G
NM_000089.4:c.324+42A>G MANE Select	NP_000080.2:n.324+42A>G