Canonical Allele Identifier: CA3498876
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040016
dbSNP Id: rs144733764

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026608G>A , CM000667.2:g.149026608G>A GRCh38
NC_000005.9:g.148406171G>A , CM000667.1:g.148406171G>A GRCh37
NC_000005.8:g.148386364G>A NCBI36
NG_007947.2:g.41567C>T , LRG_269:g.41567C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2913C>T
ENST00000515425.6:c.3017C>T MANE Select ENSP00000423660.1:p.Ser1006Phe
ENST00000675793.1:c.*2301C>T ENSP00000502039.1:n.*2301C>T
ENST00000676056.1:c.*2527C>T ENSP00000501827.1:n.*2527C>T
ENST00000323829.9:c.*2405C>T ENSP00000313025.5:n.*2405C>T
ENST00000504517.5:c.2547C>T ENSP00000421779.1:n.2547C>T
ENST00000504690.5:c.3017C>T ENSP00000425627.1:p.Ser1006Phe
ENST00000510779.1:c.2067C>T
ENST00000511307.5:c.*2904C>T ENSP00000421420.1:n.*2904C>T
ENST00000512049.5:c.2996C>T ENSP00000421860.1:p.Ser999Phe
ENST00000513604.5:c.*2512C>T ENSP00000423111.1:n.*2512C>T
ENST00000515425.5:c.3017C>T ENSP00000423660.1:p.Ser1006Phe
NM_024577.3:c.3017C>T , LRG_269t1:c.3017C>T NP_078853.2:p.Ser1006Phe
NM_024577.4:c.3017C>T MANE Select NP_078853.2:p.Ser1006Phe