Canonical Allele Identifier: CA368219744
Community Standard Title: NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404891A>G , CM000669.2:g.94404891A>G GRCh38
NC_000007.13:g.94034203A>G , CM000669.1:g.94034203A>G GRCh37
NC_000007.12:g.93872139A>G NCBI36
NG_007405.1:g.15331A>G , LRG_2:g.15331A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.431A>G MANE Select NP_000080.2:p.Asp144Gly
ENST00000297268.11:c.431A>G MANE Select ENSP00000297268.6:p.Asp144Gly
NM_000089.3:c.431A>G , LRG_2t1:c.431A>G NP_000080.2:p.Asp144Gly
ENST00000297268.10:c.431A>G ENSP00000297268.6:p.Asp144Gly
ENST00000620463.1:c.425A>G ENSP00000477719.1:p.Asp142Gly