Canonical Allele Identifier: CA447108022
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148406242G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149026679G>A , CM000667.2:g.149026679G>A GRCh38
NC_000005.9:g.148406242G>A , CM000667.1:g.148406242G>A GRCh37
NC_000005.8:g.148386435G>A NCBI36
NG_007947.2:g.41496C>T , LRG_269:g.41496C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.2842C>T
ENST00000515425.6:c.2946C>T MANE Select ENSP00000423660.1:p.Thr982=
ENST00000675793.1:c.*2230C>T ENSP00000502039.1:n.*2230C>T
ENST00000676056.1:c.*2456C>T ENSP00000501827.1:n.*2456C>T
ENST00000323829.9:c.*2334C>T ENSP00000313025.5:n.*2334C>T
ENST00000504517.5:c.2476C>T ENSP00000421779.1:n.2476C>T
ENST00000504690.5:c.2946C>T ENSP00000425627.1:p.Thr982=
ENST00000510779.1:c.1996C>T
ENST00000511307.5:c.*2833C>T ENSP00000421420.1:n.*2833C>T
ENST00000512049.5:c.2925C>T ENSP00000421860.1:p.Thr975=
ENST00000513604.5:c.*2441C>T ENSP00000423111.1:n.*2441C>T
ENST00000515425.5:c.2946C>T ENSP00000423660.1:p.Thr982=
NM_024577.3:c.2946C>T , LRG_269t1:c.2946C>T NP_078853.2:p.Thr982=
NM_024577.4:c.2946C>T MANE Select NP_078853.2:p.Thr982=