Canonical Allele Identifier: CA2683766920
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94401695-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401695C>T , CM000669.2:g.94401695C>T GRCh38
NC_000007.13:g.94031007C>T , CM000669.1:g.94031007C>T GRCh37
NC_000007.12:g.93868943C>T NCBI36
NG_007405.1:g.12135C>T , LRG_2:g.12135C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+75C>T MANE Select ENSP00000297268.6:n.279+75C>T
ENST00000297268.10:c.279+75C>T ENSP00000297268.6:n.279+75C>T
ENST00000620463.1:c.273+75C>T ENSP00000477719.1:n.273+75C>T
NM_000089.3:c.279+75C>T , LRG_2t1:c.279+75C>T NP_000080.2:n.279+75C>T
NM_000089.4:c.279+75C>T MANE Select NP_000080.2:n.279+75C>T