Canonical Allele Identifier: CA10624202
Gene: SH3PXD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 352833
ClinVar RCV Id: RCV000353640 RCV001547134
dbSNP Id: rs372849248
gnomAD v2: 5-171881435-G-T
gnomAD v3: 5-172454431-G-T
gnomAD v4: 5-172454431-G-T
MyVariant Identifiers: chr5:g.171881435G>T (hg19) chr5:g.172454431G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172454431G>T , CM000667.2:g.172454431G>T GRCh38
NC_000005.9:g.171881435G>T , CM000667.1:g.171881435G>T GRCh37
NC_000005.8:g.171814040G>T NCBI36
NG_027746.1:g.5093C>A
NG_027746.2:g.5093C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311601.6:c.-79C>A MANE Select ENSP00000309714.5:n.-79C>A
ENST00000311601.5:c.-79C>A ENSP00000309714.5:n.-79C>A
NM_001017995.2:c.-79C>A NP_001017995.1:n.-79C>A
NM_001308175.1:c.-79C>A NP_001295104.1:n.-79C>A
XM_017009351.1:c.-79C>A XP_016864840.1:n.-79C>A
NM_001017995.3:c.-79C>A MANE Select NP_001017995.1:n.-79C>A
NM_001308175.2:c.-79C>A NP_001295104.1:n.-79C>A
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