Canonical Allele Identifier: CA5487995

Gene: GDF2

Linked Data

• ClinVar Variation Id: 474673
• ClinVar RCV Id: RCV000597100 ; RCV000757325 ; RCV001082466
• dbSNP Id: rs75024165
• ExAC: 10:48413957 G / A
• gnomAD v2: 10-48413957-G-A
• gnomAD v3: 10-47325405-C-T
• gnomAD v4: 10-47325405-C-T
• MyVariant Identifiers: chr10:g.48413957G>A (hg19) ; chr10:g.47325405C>T (hg38)

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