Canonical Allele Identifier: CA3561020

Gene: SH3PXD2B

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)

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