Canonical Allele Identifier: CA368225147
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94426466-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426466A>G , CM000669.2:g.94426466A>G GRCh38
NC_000007.13:g.94055778A>G , CM000669.1:g.94055778A>G GRCh37
NC_000007.12:g.93893714A>G NCBI36
NG_007405.1:g.36906A>G , LRG_2:g.36906A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3041A>G MANE Select ENSP00000297268.6:p.Lys1014Arg
ENST00000297268.10:c.3041A>G ENSP00000297268.6:p.Lys1014Arg
ENST00000478215.1:n.600A>G
ENST00000481570.5:n.3014A>G
ENST00000620463.1:c.3035A>G ENSP00000477719.1:p.Lys1012Arg
NM_000089.3:c.3041A>G , LRG_2t1:c.3041A>G NP_000080.2:p.Lys1014Arg
NM_000089.4:c.3041A>G MANE Select NP_000080.2:p.Lys1014Arg