Canonical Allele Identifier: CA4347664

Gene: COL1A2

Linked Data

• dbSNP Id: rs779881612
• ExAC: 7:94055894 C / A
• gnomAD v4: 7-94426582-C-A
• MyVariant Identifiers: chr7:g.94055894C>A (hg19) ; chr7:g.94426582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426582C>A , CM000669.2:g.94426582C>A	GRCh38
NC_000007.13:g.94055894C>A , CM000669.1:g.94055894C>A	GRCh37
NC_000007.12:g.93893830C>A	NCBI36
NG_007405.1:g.37022C>A , LRG_2:g.37022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+52C>A MANE Select	ENSP00000297268.6:n.3105+52C>A
ENST00000297268.10:c.3105+52C>A	ENSP00000297268.6:n.3105+52C>A
ENST00000478215.1:n.716C>A
ENST00000481570.5:n.3130C>A
ENST00000488121.1:n.21+52C>A
ENST00000620463.1:c.3099+52C>A	ENSP00000477719.1:n.3099+52C>A
NM_000089.3:c.3105+52C>A , LRG_2t1:c.3105+52C>A	NP_000080.2:n.3105+52C>A
NM_000089.4:c.3105+52C>A MANE Select	NP_000080.2:n.3105+52C>A