Canonical Allele Identifier: CA447394558
Gene: SH3TC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.148386510G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149006947G>A , CM000667.2:g.149006947G>A GRCh38
NC_000005.9:g.148386510G>A , CM000667.1:g.148386510G>A GRCh37
NC_000005.8:g.148366703G>A NCBI36
NG_007947.2:g.61228C>T , LRG_269:g.61228C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.4462C>T
ENST00000515425.6:c.3609C>T MANE Select ENSP00000423660.1:p.Pro1203=
ENST00000675793.1:c.*4666C>T ENSP00000502039.1:n.*4666C>T
ENST00000323829.9:c.*2997C>T ENSP00000313025.5:n.*2997C>T
ENST00000502274.1:c.195C>T ENSP00000421092.1:p.Pro65=
ENST00000504517.5:c.3131C>T ENSP00000421779.1:n.3131C>T
ENST00000504690.5:c.3609C>T ENSP00000425627.1:p.Pro1203=
ENST00000510350.1:n.165C>T
ENST00000510779.1:c.2659C>T
ENST00000512049.5:c.3588C>T ENSP00000421860.1:p.Pro1196=
ENST00000515229.5:n.271C>T
ENST00000515425.5:c.3609C>T ENSP00000423660.1:p.Pro1203=
NM_024577.3:c.3609C>T , LRG_269t1:c.3609C>T NP_078853.2:p.Pro1203=
NM_024577.4:c.3609C>T MANE Select NP_078853.2:p.Pro1203=