Canonical Allele Identifier: CA3561020
Gene: SH3PXD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 501675
ClinVar RCV Id: RCV000591785 RCV000764589 RCV004024825
dbSNP Id: rs766153965
ExAC: 5:171765920 G / A
gnomAD v2: 5-171765920-G-A
gnomAD v3: 5-172338916-G-A
gnomAD v4: 5-172338916-G-A
MyVariant Identifiers: chr5:g.171765920G>A (hg19) chr5:g.172338916G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172338916G>A , CM000667.2:g.172338916G>A GRCh38
NC_000005.9:g.171765920G>A , CM000667.1:g.171765920G>A GRCh37
NC_000005.8:g.171698525G>A NCBI36
NG_027746.1:g.120608C>T
NG_027746.2:g.120608C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311601.6:c.2189C>T MANE Select ENSP00000309714.5:p.Pro730Leu
ENST00000636523.1:c.1228+7220C>T
ENST00000311601.5:c.2189C>T ENSP00000309714.5:p.Pro730Leu
ENST00000518522.5:c.201-5147C>T
ENST00000519643.5:c.1188+7220C>T ENSP00000430890.1:n.1188+7220C>T
NM_001017995.2:c.2189C>T NP_001017995.1:p.Pro730Leu
NM_001308175.1:c.1188+7220C>T NP_001295104.1:n.1188+7220C>T
XM_017009351.1:c.2273C>T XP_016864840.1:p.Pro758Leu
NM_001017995.3:c.2189C>T MANE Select NP_001017995.1:p.Pro730Leu
NM_001308175.2:c.1188+7220C>T NP_001295104.1:n.1188+7220C>T
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