Canonical Allele Identifier: CA1082791591
Gene: SH3TC2 HGNC NCBI

Linked Data

dbSNP Id: rs1753470042
gnomAD v3: 5-148994430-T-C
gnomAD v4: 5-148994430-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.148994430T>C , CM000667.2:g.148994430T>C GRCh38
NC_000005.9:g.148373993T>C , CM000667.1:g.148373993T>C GRCh37
NC_000005.8:g.148354186T>C NCBI36
NG_007947.2:g.73745A>G , LRG_269:g.73745A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000515425.6:c.*10281A>G MANE Select ENSP00000423660.1:n.*10281A>G
ENST00000504690.5:c.*12+9296A>G ENSP00000425627.1:n.*12+9296A>G
ENST00000510350.1:n.231+12451A>G
NM_024577.3:c.*10281A>G , LRG_269t1:c.*10281A>G NP_078853.2:n.*10281A>G
NM_024577.4:c.*10281A>G MANE Select NP_078853.2:n.*10281A>G
Search 100 bp 5'
Search 100 bp 3'