Canonical Allele Identifier: CA368219400
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401616C>G , CM000669.2:g.94401616C>G GRCh38
NC_000007.13:g.94030928C>G , CM000669.1:g.94030928C>G GRCh37
NC_000007.12:g.93868864C>G NCBI36
NG_007405.1:g.12056C>G , LRG_2:g.12056C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.275C>G MANE Select ENSP00000297268.6:p.Pro92Arg
ENST00000297268.10:c.275C>G ENSP00000297268.6:p.Pro92Arg
ENST00000620463.1:c.269C>G ENSP00000477719.1:p.Pro90Arg
NM_000089.3:c.275C>G , LRG_2t1:c.275C>G NP_000080.2:p.Pro92Arg
NM_000089.4:c.275C>G MANE Select NP_000080.2:p.Pro92Arg