Canonical Allele Identifier: CA368220095
Community Standard Title: NM_000089.4(COL1A2):c.586G>A (p.Gly196Ser)
Gene: COL1A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94406295G>A , CM000669.2:g.94406295G>A GRCh38
NC_000007.13:g.94035607G>A , CM000669.1:g.94035607G>A GRCh37
NC_000007.12:g.93873543G>A NCBI36
NG_007405.1:g.16735G>A , LRG_2:g.16735G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.586G>A MANE Select NP_000080.2:p.Gly196Ser
ENST00000297268.11:c.586G>A MANE Select ENSP00000297268.6:p.Gly196Ser
NM_000089.3:c.586G>A , LRG_2t1:c.586G>A NP_000080.2:p.Gly196Ser
ENST00000297268.10:c.586G>A ENSP00000297268.6:p.Gly196Ser
ENST00000620463.1:c.580G>A ENSP00000477719.1:p.Gly194Ser
Search 100 bp 5'
Search 100 bp 3'