Canonical Allele Identifier: CA5488156

Gene: GDF2

Linked Data

• ClinVar Variation Id: 515941
• ClinVar RCV Id: RCV000606956 ; RCV000651843
• dbSNP Id: rs117345807
• ExAC: 10:48416338 G / A
• gnomAD v2: 10-48416338-G-A
• gnomAD v3: 10-47323024-C-T
• gnomAD v4: 10-47323024-C-T
• MyVariant Identifiers: chr10:g.48416338G>A (hg19) ; chr10:g.47323024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47323024C>T , CM000672.2:g.47323024C>T	GRCh38
NC_000010.10:g.48416338G>A , CM000672.1:g.48416338G>A	GRCh37
NC_000010.9:g.48036344G>A	NCBI36
NG_033916.1:g.5535C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000581492.3:c.346+10C>T MANE Select	ENSP00000463051.1:n.346+10C>T
ENST00000581492.2:c.346+10C>T	ENSP00000463051.1:n.346+10C>T
NM_016204.2:c.346+10C>T	NP_057288.1:n.346+10C>T
XM_006717761.2:c.346+10C>T	XP_006717824.1:n.346+10C>T
NM_016204.3:c.346+10C>T	NP_057288.1:n.346+10C>T
NM_016204.4:c.346+10C>T MANE Select	NP_057288.1:n.346+10C>T