Canonical Allele Identifier: CA3561644
Gene: SH3PXD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 352827
ClinVar RCV Id: RCV000296190 RCV000958574
dbSNP Id: rs79926304
ExAC: 5:171833277 C / T
gnomAD v2: 5-171833277-C-T
gnomAD v3: 5-172406273-C-T
gnomAD v4: 5-172406273-C-T
MyVariant Identifiers: chr5:g.171833277C>T (hg19) chr5:g.172406273C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172406273C>T , CM000667.2:g.172406273C>T GRCh38
NC_000005.9:g.171833277C>T , CM000667.1:g.171833277C>T GRCh37
NC_000005.8:g.171765882C>T NCBI36
NG_027746.1:g.53251G>A
NG_027746.2:g.53251G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311601.6:c.232+4G>A MANE Select ENSP00000309714.5:n.232+4G>A
ENST00000636523.1:c.188+4G>A
ENST00000311601.5:c.232+4G>A ENSP00000309714.5:n.232+4G>A
ENST00000519643.5:c.232+4G>A ENSP00000430890.1:n.232+4G>A
NM_001017995.2:c.232+4G>A NP_001017995.1:n.232+4G>A
NM_001308175.1:c.232+4G>A NP_001295104.1:n.232+4G>A
XM_017009351.1:c.232+4G>A XP_016864840.1:n.232+4G>A
NM_001017995.3:c.232+4G>A MANE Select NP_001017995.1:n.232+4G>A
NM_001308175.2:c.232+4G>A NP_001295104.1:n.232+4G>A
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