Canonical Allele Identifier: CA563537165
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1213798884
gnomAD v2: 5-148374209-G-C
gnomAD v3: 5-148994646-G-C
gnomAD v4: 5-148994646-G-C
MyVariant Identifiers: chr5:g.148374209G>C (hg19) chr5:g.148994646G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994646G>C , CM000667.2:g.148994646G>C GRCh38
NC_000005.9:g.148374209G>C , CM000667.1:g.148374209G>C GRCh37
NC_000005.8:g.148354402G>C NCBI36
NG_007947.2:g.73529C>G , LRG_269:g.73529C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10065C>G MANE Select ENSP00000423660.1:n.*10065C>G
ENST00000504690.5:c.*12+9080C>G ENSP00000425627.1:n.*12+9080C>G
ENST00000510350.1:n.231+12235C>G
NM_024577.3:c.*10065C>G , LRG_269t1:c.*10065C>G NP_078853.2:n.*10065C>G
NM_024577.4:c.*10065C>G MANE Select NP_078853.2:n.*10065C>G
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