Canonical Allele Identifier: CA4346599

Gene: COL1A2

Linked Data

• dbSNP Id: rs370999977
• ExAC: 7:94030951 C / G
• gnomAD v2: 7-94030951-C-G
• gnomAD v3: 7-94401639-C-G
• gnomAD v4: 7-94401639-C-G
• MyVariant Identifiers: chr7:g.94030951C>G (hg19) ; chr7:g.94401639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401639C>G , CM000669.2:g.94401639C>G	GRCh38
NC_000007.13:g.94030951C>G , CM000669.1:g.94030951C>G	GRCh37
NC_000007.12:g.93868887C>G	NCBI36
NG_007405.1:g.12079C>G , LRG_2:g.12079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+19C>G MANE Select	ENSP00000297268.6:n.279+19C>G
ENST00000297268.10:c.279+19C>G	ENSP00000297268.6:n.279+19C>G
ENST00000620463.1:c.273+19C>G	ENSP00000477719.1:n.273+19C>G
NM_000089.3:c.279+19C>G , LRG_2t1:c.279+19C>G	NP_000080.2:n.279+19C>G
NM_000089.4:c.279+19C>G MANE Select	NP_000080.2:n.279+19C>G