Canonical Allele Identifier: CA651752643
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401657T>G , CM000669.2:g.94401657T>G GRCh38
NC_000007.13:g.94030969T>G , CM000669.1:g.94030969T>G GRCh37
NC_000007.12:g.93868905T>G NCBI36
NG_007405.1:g.12097T>G , LRG_2:g.12097T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+37T>G MANE Select ENSP00000297268.6:n.279+37T>G
ENST00000297268.10:c.279+37T>G ENSP00000297268.6:n.279+37T>G
ENST00000620463.1:c.273+37T>G ENSP00000477719.1:n.273+37T>G
NM_000089.3:c.279+37T>G , LRG_2t1:c.279+37T>G NP_000080.2:n.279+37T>G
NM_000089.4:c.279+37T>G MANE Select NP_000080.2:n.279+37T>G