Canonical Allele Identifier: CA3498837

Gene: SH3TC2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149012634G>T , CM000667.2:g.149012634G>T	GRCh38
NC_000005.9:g.148392197G>T , CM000667.1:g.148392197G>T	GRCh37
NC_000005.8:g.148372390G>T	NCBI36
NG_007947.2:g.55541C>A , LRG_269:g.55541C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3050C>A
ENST00000515425.6:c.3154C>A MANE Select	ENSP00000423660.1:p.Arg1052=
ENST00000675793.1:c.*2438C>A	ENSP00000502039.1:n.*2438C>A
ENST00000676056.1:c.*2805C>A	ENSP00000501827.1:n.*2805C>A
ENST00000323829.9:c.*2542C>A	ENSP00000313025.5:n.*2542C>A
ENST00000504517.5:c.2684C>A	ENSP00000421779.1:n.2684C>A
ENST00000504690.5:c.3154C>A	ENSP00000425627.1:p.Arg1052=
ENST00000510779.1:c.2204C>A
ENST00000512049.5:c.3133C>A	ENSP00000421860.1:p.Arg1045=
ENST00000515425.5:c.3154C>A	ENSP00000423660.1:p.Arg1052=
NM_024577.3:c.3154C>A , LRG_269t1:c.3154C>A	NP_078853.2:p.Arg1052=
NM_024577.4:c.3154C>A MANE Select	NP_078853.2:p.Arg1052=