Canonical Allele Identifier: CA2683772216

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94423302-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94423302G>T , CM000669.2:g.94423302G>T	GRCh38
NC_000007.13:g.94052614G>T , CM000669.1:g.94052614G>T	GRCh37
NC_000007.12:g.93890550G>T	NCBI36
NG_007405.1:g.33742G>T , LRG_2:g.33742G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2565+184G>T MANE Select	ENSP00000297268.6:n.2565+184G>T
ENST00000297268.10:c.2565+184G>T	ENSP00000297268.6:n.2565+184G>T
ENST00000481570.5:n.832G>T
ENST00000620463.1:c.2559+184G>T	ENSP00000477719.1:n.2559+184G>T
NM_000089.3:c.2565+184G>T , LRG_2t1:c.2565+184G>T	NP_000080.2:n.2565+184G>T
NM_000089.4:c.2565+184G>T MANE Select	NP_000080.2:n.2565+184G>T