Canonical Allele Identifier: CA807624112
Gene: SH3PXD2B HGNC NCBI

Linked Data

dbSNP Id: rs1216985199
gnomAD v3: 5-172333418-C-G
gnomAD v4: 5-172333418-C-G
MyVariant Identifiers: chr5:g.171760422C>G (hg19) chr5:g.172333418C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.172333418C>G , CM000667.2:g.172333418C>G GRCh38
NC_000005.9:g.171760422C>G , CM000667.1:g.171760422C>G GRCh37
NC_000005.8:g.171693027C>G NCBI36
NG_027746.1:g.126106G>C
NG_027746.2:g.126106G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636523.1:c.1229-8038G>C
ENST00000519643.5:c.1189-8038G>C ENSP00000430890.1:n.1189-8038G>C
NM_001308175.1:c.1189-8038G>C NP_001295104.1:n.1189-8038G>C
NM_001308175.2:c.1189-8038G>C NP_001295104.1:n.1189-8038G>C
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