Canonical Allele Identifier: CA3561702

Gene: SH3PXD2B

Linked Data

• ClinVar Variation Id: 352829
• ClinVar RCV Id: RCV000292463 ; RCV003114508
• dbSNP Id: rs762908120
• ExAC: 5:171881291 G / A
• gnomAD v2: 5-171881291-G-A
• gnomAD v3: 5-172454287-G-A
• gnomAD v4: 5-172454287-G-A
• MyVariant Identifiers: chr5:g.171881291G>A (hg19) ; chr5:g.172454287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.172454287G>A , CM000667.2:g.172454287G>A	GRCh38
NC_000005.9:g.171881291G>A , CM000667.1:g.171881291G>A	GRCh37
NC_000005.8:g.171813896G>A	NCBI36
NG_027746.1:g.5237C>T
NG_027746.2:g.5237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311601.6:c.66C>T MANE Select	ENSP00000309714.5:p.Asn22=
ENST00000636523.1:c.22C>T
ENST00000311601.5:c.66C>T	ENSP00000309714.5:p.Asn22=
ENST00000519643.5:c.66C>T	ENSP00000430890.1:p.Asn22=
NM_001017995.2:c.66C>T	NP_001017995.1:p.Asn22=
NM_001308175.1:c.66C>T	NP_001295104.1:p.Asn22=
XM_017009351.1:c.66C>T	XP_016864840.1:p.Asn22=
NM_001017995.3:c.66C>T MANE Select	NP_001017995.1:p.Asn22=
NM_001308175.2:c.66C>T	NP_001295104.1:p.Asn22=