Canonical Allele Identifier: CA368225278

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94426531-G-T
• MyVariant Identifiers: chr7:g.94055843G>T (hg19) ; chr7:g.94426531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426531G>T , CM000669.2:g.94426531G>T	GRCh38
NC_000007.13:g.94055843G>T , CM000669.1:g.94055843G>T	GRCh37
NC_000007.12:g.93893779G>T	NCBI36
NG_007405.1:g.36971G>T , LRG_2:g.36971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+1G>T MANE Select	ENSP00000297268.6:n.3105+1G>T
ENST00000297268.10:c.3105+1G>T	ENSP00000297268.6:n.3105+1G>T
ENST00000478215.1:n.665G>T
ENST00000481570.5:n.3079G>T
ENST00000488121.1:n.21+1G>T
ENST00000620463.1:c.3099+1G>T	ENSP00000477719.1:n.3099+1G>T
NM_000089.3:c.3105+1G>T , LRG_2t1:c.3105+1G>T	NP_000080.2:n.3105+1G>T
NM_000089.4:c.3105+1G>T MANE Select	NP_000080.2:n.3105+1G>T