Canonical Allele Identifier: CA3499290

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149031583C>T , CM000667.2:g.149031583C>T	GRCh38
NC_000005.9:g.148411146C>T , CM000667.1:g.148411146C>T	GRCh37
NC_000005.8:g.148391339C>T	NCBI36
NG_007947.2:g.36592G>A , LRG_269:g.36592G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1106G>A MANE Select	NP_078853.2:p.Arg369His
ENST00000515425.6:c.1106G>A MANE Select	ENSP00000423660.1:p.Arg369His
NM_024577.3:c.1106G>A , LRG_269t1:c.1106G>A	NP_078853.2:p.Arg369His
ENST00000323829.9:c.*494G>A	ENSP00000313025.5:n.*494G>A
ENST00000502274.2:c.1126G>A
ENST00000504517.5:c.636G>A	ENSP00000421779.1:n.636G>A
ENST00000504690.5:c.1106G>A	ENSP00000425627.1:p.Arg369His
ENST00000510779.1:c.34G>A
ENST00000511307.5:c.*886G>A	ENSP00000421420.1:n.*886G>A
ENST00000512049.5:c.1085G>A	ENSP00000421860.1:p.Arg362His
ENST00000513340.1:n.480G>A
ENST00000513604.5:c.*494G>A	ENSP00000423111.1:n.*494G>A
ENST00000515425.5:c.1106G>A	ENSP00000423660.1:p.Arg369His
ENST00000675793.1:c.*390G>A	ENSP00000502039.1:n.*390G>A
ENST00000676056.1:c.*494G>A	ENSP00000501827.1:n.*494G>A