Canonical Allele Identifier: CA3498695
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 245766
dbSNP Id: rs200728983

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149007044C>A , CM000667.2:g.149007044C>A GRCh38
NC_000005.9:g.148386607C>A , CM000667.1:g.148386607C>A GRCh37
NC_000005.8:g.148366800C>A NCBI36
NG_007947.2:g.61131G>T , LRG_269:g.61131G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.4365G>T
ENST00000515425.6:c.3512G>T MANE Select ENSP00000423660.1:p.Arg1171Leu
ENST00000675793.1:c.*4569G>T ENSP00000502039.1:n.*4569G>T
ENST00000323829.9:c.*2900G>T ENSP00000313025.5:n.*2900G>T
ENST00000502274.1:c.98G>T ENSP00000421092.1:p.Arg33Leu
ENST00000504517.5:c.3034G>T ENSP00000421779.1:n.3034G>T
ENST00000504690.5:c.3512G>T ENSP00000425627.1:p.Arg1171Leu
ENST00000510350.1:n.68G>T
ENST00000510779.1:c.2562G>T
ENST00000512049.5:c.3491G>T ENSP00000421860.1:p.Arg1164Leu
ENST00000515229.5:n.174G>T
ENST00000515425.5:c.3512G>T ENSP00000423660.1:p.Arg1171Leu
NM_024577.3:c.3512G>T , LRG_269t1:c.3512G>T NP_078853.2:p.Arg1171Leu
NM_024577.4:c.3512G>T MANE Select NP_078853.2:p.Arg1171Leu