Canonical Allele Identifier: CA5487995
Gene: GDF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 474673

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47325405C>T , CM000672.2:g.47325405C>T GRCh38
NC_000010.10:g.48413957G>A , CM000672.1:g.48413957G>A GRCh37
NC_000010.9:g.48033963G>A NCBI36
NG_033916.1:g.7916C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000581492.3:c.911C>T MANE Select ENSP00000463051.1:p.Thr304Met
ENST00000581492.2:c.911C>T ENSP00000463051.1:p.Thr304Met
NM_016204.2:c.911C>T NP_057288.1:p.Thr304Met
XM_006717761.2:c.911C>T XP_006717824.1:p.Thr304Met
NM_016204.3:c.911C>T NP_057288.1:p.Thr304Met
NM_016204.4:c.911C>T MANE Select NP_057288.1:p.Thr304Met