Canonical Allele Identifier: CA5487996

Gene: GDF2

Linked Data

• ClinVar Variation Id: 1587500
• ClinVar RCV Id: RCV002103335 ; RCV002372913
• dbSNP Id: rs199937159
• ExAC: 10:48413965 C / T
• gnomAD v2: 10-48413965-C-T
• gnomAD v3: 10-47325397-G-A
• gnomAD v4: 10-47325397-G-A
• MyVariant Identifiers: chr10:g.48413965C>T (hg19) ; chr10:g.47325397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47325397G>A , CM000672.2:g.47325397G>A	GRCh38
NC_000010.10:g.48413965C>T , CM000672.1:g.48413965C>T	GRCh37
NC_000010.9:g.48033971C>T	NCBI36
NG_033916.1:g.7908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581492.3:c.903G>A MANE Select	ENSP00000463051.1:p.Glu301=
ENST00000581492.2:c.903G>A	ENSP00000463051.1:p.Glu301=
NM_016204.2:c.903G>A	NP_057288.1:p.Glu301=
XM_006717761.2:c.903G>A	XP_006717824.1:p.Glu301=
NM_016204.3:c.903G>A	NP_057288.1:p.Glu301=
NM_016204.4:c.903G>A MANE Select	NP_057288.1:p.Glu301=