Canonical Allele Identifier: CA368219495
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404593G>C , CM000669.2:g.94404593G>C GRCh38
NC_000007.13:g.94033905G>C , CM000669.1:g.94033905G>C GRCh37
NC_000007.12:g.93871841G>C NCBI36
NG_007405.1:g.15033G>C , LRG_2:g.15033G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.317G>C MANE Select ENSP00000297268.6:p.Gly106Ala
ENST00000297268.10:c.317G>C ENSP00000297268.6:p.Gly106Ala
ENST00000620463.1:c.311G>C ENSP00000477719.1:p.Gly104Ala
NM_000089.3:c.317G>C , LRG_2t1:c.317G>C NP_000080.2:p.Gly106Ala
NM_000089.4:c.317G>C MANE Select NP_000080.2:p.Gly106Ala