Canonical Allele Identifier: CA805483720
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1209579583
gnomAD v3: 5-148994630-G-A
gnomAD v4: 5-148994630-G-A
MyVariant Identifiers: chr5:g.148374193G>A (hg19) chr5:g.148994630G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994630G>A , CM000667.2:g.148994630G>A GRCh38
NC_000005.9:g.148374193G>A , CM000667.1:g.148374193G>A GRCh37
NC_000005.8:g.148354386G>A NCBI36
NG_007947.2:g.73545C>T , LRG_269:g.73545C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*10081C>T MANE Select ENSP00000423660.1:n.*10081C>T
ENST00000504690.5:c.*12+9096C>T ENSP00000425627.1:n.*12+9096C>T
ENST00000510350.1:n.231+12251C>T
NM_024577.3:c.*10081C>T , LRG_269t1:c.*10081C>T NP_078853.2:n.*10081C>T
NM_024577.4:c.*10081C>T MANE Select NP_078853.2:n.*10081C>T
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