Canonical Allele Identifier: CA3561552

Gene: SH3PXD2B

Linked Data

• ClinVar Variation Id: 352826
• ClinVar RCV Id: RCV002061276
• dbSNP Id: rs79535495
• ExAC: 5:171800780 G / C
• gnomAD v2: 5-171800780-G-C
• gnomAD v3: 5-172373776-G-C
• gnomAD v4: 5-172373776-G-C
• MyVariant Identifiers: chr5:g.171800780G>C (hg19) ; chr5:g.172373776G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.172373776G>C , CM000667.2:g.172373776G>C	GRCh38
NC_000005.9:g.171800780G>C , CM000667.1:g.171800780G>C	GRCh37
NC_000005.8:g.171733385G>C	NCBI36
NG_027746.1:g.85748C>G
NG_027746.2:g.85748C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000311601.6:c.427+14C>G MANE Select	ENSP00000309714.5:n.427+14C>G
ENST00000636523.1:c.383+14C>G
ENST00000311601.5:c.427+14C>G	ENSP00000309714.5:n.427+14C>G
ENST00000519643.5:c.427+14C>G	ENSP00000430890.1:n.427+14C>G
NM_001017995.2:c.427+14C>G	NP_001017995.1:n.427+14C>G
NM_001308175.1:c.427+14C>G	NP_001295104.1:n.427+14C>G
XM_017009351.1:c.427+14C>G	XP_016864840.1:n.427+14C>G
NM_001017995.3:c.427+14C>G MANE Select	NP_001017995.1:n.427+14C>G
NM_001308175.2:c.427+14C>G	NP_001295104.1:n.427+14C>G