Canonical Allele Identifier: CA5488038

Gene: GDF2

Linked Data

• dbSNP Id: rs373157226
• ExAC: 10:48414140 C / T
• gnomAD v2: 10-48414140-C-T
• gnomAD v3: 10-47325222-G-A
• gnomAD v4: 10-47325222-G-A
• MyVariant Identifiers: chr10:g.48414140C>T (hg19) ; chr10:g.47325222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47325222G>A , CM000672.2:g.47325222G>A	GRCh38
NC_000010.10:g.48414140C>T , CM000672.1:g.48414140C>T	GRCh37
NC_000010.9:g.48034146C>T	NCBI36
NG_033916.1:g.7733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581492.3:c.728G>A MANE Select	ENSP00000463051.1:p.Ser243Asn
ENST00000581492.2:c.728G>A	ENSP00000463051.1:p.Ser243Asn
NM_016204.2:c.728G>A	NP_057288.1:p.Ser243Asn
XM_006717761.2:c.728G>A	XP_006717824.1:p.Ser243Asn
NM_016204.3:c.728G>A	NP_057288.1:p.Ser243Asn
NM_016204.4:c.728G>A MANE Select	NP_057288.1:p.Ser243Asn