Canonical Allele Identifier: CA3499154

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028149G>A , CM000667.2:g.149028149G>A	GRCh38
NC_000005.9:g.148407712G>A , CM000667.1:g.148407712G>A	GRCh37
NC_000005.8:g.148387905G>A	NCBI36
NG_007947.2:g.40026C>T , LRG_269:g.40026C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1583C>T MANE Select	NP_078853.2:p.Ala528Val
ENST00000515425.6:c.1583C>T MANE Select	ENSP00000423660.1:p.Ala528Val
NM_024577.3:c.1583C>T , LRG_269t1:c.1583C>T	NP_078853.2:p.Ala528Val
ENST00000323829.9:c.*971C>T	ENSP00000313025.5:n.*971C>T
ENST00000502274.2:c.1479C>T
ENST00000504517.5:c.1113C>T	ENSP00000421779.1:n.1113C>T
ENST00000504690.5:c.1583C>T	ENSP00000425627.1:p.Ala528Val
ENST00000510779.1:c.633C>T
ENST00000511307.5:c.*1363C>T	ENSP00000421420.1:n.*1363C>T
ENST00000512049.5:c.1562C>T	ENSP00000421860.1:p.Ala521Val
ENST00000513604.5:c.*971C>T	ENSP00000423111.1:n.*971C>T
ENST00000515425.5:c.1583C>T	ENSP00000423660.1:p.Ala528Val
ENST00000675793.1:c.*867C>T	ENSP00000502039.1:n.*867C>T
ENST00000676056.1:c.*1093C>T	ENSP00000501827.1:n.*1093C>T