Canonical Allele Identifier: CA10654776
Community Standard Title: NM_000089.4(COL1A2):c.1550G>A (p.Gly517Asp)
Gene: COL1A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94413129G>A , CM000669.2:g.94413129G>A GRCh38
NC_000007.13:g.94042441G>A , CM000669.1:g.94042441G>A GRCh37
NC_000007.12:g.93880377G>A NCBI36
NG_007405.1:g.23569G>A , LRG_2:g.23569G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.1550G>A MANE Select NP_000080.2:p.Gly517Asp
ENST00000297268.11:c.1550G>A MANE Select ENSP00000297268.6:p.Gly517Asp
NM_000089.3:c.1550G>A , LRG_2t1:c.1550G>A NP_000080.2:p.Gly517Asp
ENST00000297268.10:c.1550G>A ENSP00000297268.6:p.Gly517Asp
ENST00000620463.1:c.1544G>A ENSP00000477719.1:p.Gly515Asp
Search 100 bp 5'
Search 100 bp 3'