Canonical Allele Identifier: CA3561302

Gene: SH3PXD2B

Linked Data

• ClinVar Variation Id: 499846
• ClinVar RCV Id: RCV000596320 ; RCV001157078
• dbSNP Id: rs186443822
• ExAC: 5:171773272 C / A
• gnomAD v2: 5-171773272-C-A
• gnomAD v3: 5-172346268-C-A
• gnomAD v4: 5-172346268-C-A
• MyVariant Identifiers: chr5:g.171773272C>A (hg19) ; chr5:g.172346268C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.172346268C>A , CM000667.2:g.172346268C>A	GRCh38
NC_000005.9:g.171773272C>A , CM000667.1:g.171773272C>A	GRCh37
NC_000005.8:g.171705877C>A	NCBI36
NG_027746.1:g.113256G>T
NG_027746.2:g.113256G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311601.6:c.1063-7G>T MANE Select	ENSP00000309714.5:n.1063-7G>T
ENST00000636523.1:c.1103-7G>T
ENST00000311601.5:c.1063-7G>T	ENSP00000309714.5:n.1063-7G>T
ENST00000518522.5:c.75-7G>T
ENST00000519643.5:c.1063-7G>T	ENSP00000430890.1:n.1063-7G>T
NM_001017995.2:c.1063-7G>T	NP_001017995.1:n.1063-7G>T
NM_001308175.1:c.1063-7G>T	NP_001295104.1:n.1063-7G>T
XM_017009351.1:c.1147-7G>T	XP_016864840.1:n.1147-7G>T
NM_001017995.3:c.1063-7G>T MANE Select	NP_001017995.1:n.1063-7G>T
NM_001308175.2:c.1063-7G>T	NP_001295104.1:n.1063-7G>T