Canonical Allele Identifier: CA1082791598
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1753470080
gnomAD v3: 5-148994432-G-A
gnomAD v4: 5-148994432-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994432G>A , CM000667.2:g.148994432G>A GRCh38
NC_000005.9:g.148373995G>A , CM000667.1:g.148373995G>A GRCh37
NC_000005.8:g.148354188G>A NCBI36
NG_007947.2:g.73743C>T , LRG_269:g.73743C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10279C>T MANE Select ENSP00000423660.1:n.*10279C>T
ENST00000504690.5:c.*12+9294C>T ENSP00000425627.1:n.*12+9294C>T
ENST00000510350.1:n.231+12449C>T
NM_024577.3:c.*10279C>T , LRG_269t1:c.*10279C>T NP_078853.2:n.*10279C>T
NM_024577.4:c.*10279C>T MANE Select NP_078853.2:n.*10279C>T
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