Canonical Allele Identifier: CA2683766755

Gene: COL1A2

Linked Data

• gnomAD v4: 7-94401506-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401506C>T , CM000669.2:g.94401506C>T	GRCh38
NC_000007.13:g.94030818C>T , CM000669.1:g.94030818C>T	GRCh37
NC_000007.12:g.93868754C>T	NCBI36
NG_007405.1:g.11946C>T , LRG_2:g.11946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-61C>T MANE Select	ENSP00000297268.6:n.226-61C>T
ENST00000297268.10:c.226-61C>T	ENSP00000297268.6:n.226-61C>T
ENST00000620463.1:c.220-61C>T	ENSP00000477719.1:n.220-61C>T
NM_000089.3:c.226-61C>T , LRG_2t1:c.226-61C>T	NP_000080.2:n.226-61C>T
NM_000089.4:c.226-61C>T MANE Select	NP_000080.2:n.226-61C>T