Canonical Allele Identifier: CA593487638

Gene: GDF2

Linked Data

• ClinVar Variation Id: 1362792
• ClinVar RCV Id: RCV001901921 ; RCV002425133
• dbSNP Id: rs1555209009
• gnomAD v2: 10-48414042-TC-T
• gnomAD v3: 10-47325318-TG-T
• gnomAD v4: 10-47325318-TG-T
• MyVariant Identifiers: chr10:g.48414043del (hg19) ; chr10:g.47325319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47325319del , CM000672.2:g.47325319del	GRCh38
NC_000010.10:g.48414043del , CM000672.1:g.48414043del	GRCh37
NC_000010.9:g.48034049del	NCBI36
NG_033916.1:g.7830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581492.3:c.825del MANE Select	ENSP00000463051.1:p.Met275IlefsTer?
ENST00000581492.2:c.825del	ENSP00000463051.1:p.Met275IlefsTer?
NM_016204.2:c.825del	NP_057288.1:p.Met275IlefsTer?
XM_006717761.2:c.825del	XP_006717824.1:p.Met275IlefsTer?
NM_016204.3:c.825del	NP_057288.1:p.Met275IlefsTer?
NM_016204.4:c.825del MANE Select	NP_057288.1:p.Met275IlefsTer?