Canonical Allele Identifier: CA162908770
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs912308942
gnomAD v3: 7-94401700-A-G
gnomAD v4: 7-94401700-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401700A>G , CM000669.2:g.94401700A>G GRCh38
NC_000007.13:g.94031012A>G , CM000669.1:g.94031012A>G GRCh37
NC_000007.12:g.93868948A>G NCBI36
NG_007405.1:g.12140A>G , LRG_2:g.12140A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+80A>G MANE Select ENSP00000297268.6:n.279+80A>G
ENST00000297268.10:c.279+80A>G ENSP00000297268.6:n.279+80A>G
ENST00000620463.1:c.273+80A>G ENSP00000477719.1:n.273+80A>G
NM_000089.3:c.279+80A>G , LRG_2t1:c.279+80A>G NP_000080.2:n.279+80A>G
NM_000089.4:c.279+80A>G MANE Select NP_000080.2:n.279+80A>G