Canonical Allele Identifier: CA2683766855

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94401625-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401625G>T , CM000669.2:g.94401625G>T	GRCh38
NC_000007.13:g.94030937G>T , CM000669.1:g.94030937G>T	GRCh37
NC_000007.12:g.93868873G>T	NCBI36
NG_007405.1:g.12065G>T , LRG_2:g.12065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+5G>T MANE Select	ENSP00000297268.6:n.279+5G>T
ENST00000297268.10:c.279+5G>T	ENSP00000297268.6:n.279+5G>T
ENST00000620463.1:c.273+5G>T	ENSP00000477719.1:n.273+5G>T
NM_000089.3:c.279+5G>T , LRG_2t1:c.279+5G>T	NP_000080.2:n.279+5G>T
NM_000089.4:c.279+5G>T MANE Select	NP_000080.2:n.279+5G>T