Canonical Allele Identifier: CA2578942242
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94426567-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426567C>G , CM000669.2:g.94426567C>G GRCh38
NC_000007.13:g.94055879C>G , CM000669.1:g.94055879C>G GRCh37
NC_000007.12:g.93893815C>G NCBI36
NG_007405.1:g.37007C>G , LRG_2:g.37007C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+37C>G MANE Select ENSP00000297268.6:n.3105+37C>G
ENST00000297268.10:c.3105+37C>G ENSP00000297268.6:n.3105+37C>G
ENST00000478215.1:n.701C>G
ENST00000481570.5:n.3115C>G
ENST00000488121.1:n.21+37C>G
ENST00000620463.1:c.3099+37C>G ENSP00000477719.1:n.3099+37C>G
NM_000089.3:c.3105+37C>G , LRG_2t1:c.3105+37C>G NP_000080.2:n.3105+37C>G
NM_000089.4:c.3105+37C>G MANE Select NP_000080.2:n.3105+37C>G