Canonical Allele Identifier: CA2578941496

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94404788-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94404788G>T , CM000669.2:g.94404788G>T	GRCh38
NC_000007.13:g.94034100G>T , CM000669.1:g.94034100G>T	GRCh37
NC_000007.12:g.93872036G>T	NCBI36
NG_007405.1:g.15228G>T , LRG_2:g.15228G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297268.11:c.378+42G>T MANE Select	ENSP00000297268.6:n.378+42G>T
ENST00000297268.10:c.378+42G>T	ENSP00000297268.6:n.378+42G>T
ENST00000620463.1:c.372+42G>T	ENSP00000477719.1:n.372+42G>T
NM_000089.3:c.378+42G>T , LRG_2t1:c.378+42G>T	NP_000080.2:n.378+42G>T
NM_000089.4:c.378+42G>T MANE Select	NP_000080.2:n.378+42G>T