Canonical Allele Identifier: CA5488037

Gene: GDF2

Linked Data

• ClinVar Variation Id: 706045
• ClinVar RCV Id: RCV000876527 ; RCV002382007
• dbSNP Id: rs145385373
• ExAC: 10:48414136 G / A
• gnomAD v2: 10-48414136-G-A
• gnomAD v3: 10-47325226-C-T
• gnomAD v4: 10-47325226-C-T
• MyVariant Identifiers: chr10:g.48414136G>A (hg19) ; chr10:g.47325226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47325226C>T , CM000672.2:g.47325226C>T	GRCh38
NC_000010.10:g.48414136G>A , CM000672.1:g.48414136G>A	GRCh37
NC_000010.9:g.48034142G>A	NCBI36
NG_033916.1:g.7737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581492.3:c.732C>T MANE Select	ENSP00000463051.1:p.Val244=
ENST00000581492.2:c.732C>T	ENSP00000463051.1:p.Val244=
NM_016204.2:c.732C>T	NP_057288.1:p.Val244=
XM_006717761.2:c.732C>T	XP_006717824.1:p.Val244=
NM_016204.3:c.732C>T	NP_057288.1:p.Val244=
NM_016204.4:c.732C>T MANE Select	NP_057288.1:p.Val244=