Canonical Allele Identifier: CA447399597
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148407612T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149028049T>A , CM000667.2:g.149028049T>A GRCh38
NC_000005.9:g.148407612T>A , CM000667.1:g.148407612T>A GRCh37
NC_000005.8:g.148387805T>A NCBI36
NG_007947.2:g.40126A>T , LRG_269:g.40126A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1579A>T
ENST00000515425.6:c.1683A>T MANE Select ENSP00000423660.1:p.Ala561=
ENST00000675793.1:c.*967A>T ENSP00000502039.1:n.*967A>T
ENST00000676056.1:c.*1193A>T ENSP00000501827.1:n.*1193A>T
ENST00000323829.9:c.*1071A>T ENSP00000313025.5:n.*1071A>T
ENST00000504517.5:c.1213A>T ENSP00000421779.1:n.1213A>T
ENST00000504690.5:c.1683A>T ENSP00000425627.1:p.Ala561=
ENST00000510779.1:c.733A>T
ENST00000511307.5:c.*1463A>T ENSP00000421420.1:n.*1463A>T
ENST00000512049.5:c.1662A>T ENSP00000421860.1:p.Ala554=
ENST00000513604.5:c.*1071A>T ENSP00000423111.1:n.*1071A>T
ENST00000515425.5:c.1683A>T ENSP00000423660.1:p.Ala561=
NM_024577.3:c.1683A>T , LRG_269t1:c.1683A>T NP_078853.2:p.Ala561=
NM_024577.4:c.1683A>T MANE Select NP_078853.2:p.Ala561=