Canonical Allele Identifier: CA2683766911
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94401688-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401688A>G , CM000669.2:g.94401688A>G GRCh38
NC_000007.13:g.94031000A>G , CM000669.1:g.94031000A>G GRCh37
NC_000007.12:g.93868936A>G NCBI36
NG_007405.1:g.12128A>G , LRG_2:g.12128A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+68A>G MANE Select ENSP00000297268.6:n.279+68A>G
ENST00000297268.10:c.279+68A>G ENSP00000297268.6:n.279+68A>G
ENST00000620463.1:c.273+68A>G ENSP00000477719.1:n.273+68A>G
NM_000089.3:c.279+68A>G , LRG_2t1:c.279+68A>G NP_000080.2:n.279+68A>G
NM_000089.4:c.279+68A>G MANE Select NP_000080.2:n.279+68A>G