Canonical Allele Identifier: CA563537136
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1386813413
gnomAD v2: 5-148374143-G-GTGGGTGGT
gnomAD v3: 5-148994580-G-GTGGGTGGT
gnomAD v4: 5-148994580-G-GTGGGTGGT
MyVariant Identifiers: chr5:g.148374143_148374144insTGGGTGGT (hg19) chr5:g.148994580_148994581insTGGGTGGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994590_148994597dup , CM000667.2:g.148994590_148994597dup GRCh38
NC_000005.9:g.148374153_148374160dup , CM000667.1:g.148374153_148374160dup GRCh37
NC_000005.8:g.148354346_148354353dup NCBI36
NG_007947.2:g.73587_73594dup , LRG_269:g.73587_73594dup

Transcript Alleles

HGVS Amino-acid change
ENST00000515425.6:c.*10123_*10130dup MANE Select ENSP00000423660.1:n.*10123_*10130dup
ENST00000504690.5:c.*12+9138_*12+9145dup ENSP00000425627.1:n.*12+9138_*12+9145dup
ENST00000510350.1:n.231+12293_231+12300dup
NM_024577.3:c.*10123_*10130dup , LRG_269t1:c.*10123_*10130dup NP_078853.2:n.*10123_*10130dup
NM_024577.4:c.*10123_*10130dup MANE Select NP_078853.2:n.*10123_*10130dup
Search 100 bp 5'
Search 100 bp 3'