Canonical Allele Identifier: CA3499222

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028493G>A , CM000667.2:g.149028493G>A	GRCh38
NC_000005.9:g.148408056G>A , CM000667.1:g.148408056G>A	GRCh37
NC_000005.8:g.148388249G>A	NCBI36
NG_007947.2:g.39682C>T , LRG_269:g.39682C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1239C>T MANE Select	NP_078853.2:p.Ala413=
ENST00000515425.6:c.1239C>T MANE Select	ENSP00000423660.1:p.Ala413=
NM_024577.3:c.1239C>T , LRG_269t1:c.1239C>T	NP_078853.2:p.Ala413=
ENST00000323829.9:c.*627C>T	ENSP00000313025.5:n.*627C>T
ENST00000502274.2:c.1259C>T
ENST00000504517.5:c.769C>T	ENSP00000421779.1:n.769C>T
ENST00000504690.5:c.1239C>T	ENSP00000425627.1:p.Ala413=
ENST00000510779.1:c.289C>T
ENST00000511307.5:c.*1019C>T	ENSP00000421420.1:n.*1019C>T
ENST00000512049.5:c.1218C>T	ENSP00000421860.1:p.Ala406=
ENST00000513340.1:n.613C>T
ENST00000513604.5:c.*627C>T	ENSP00000423111.1:n.*627C>T
ENST00000515425.5:c.1239C>T	ENSP00000423660.1:p.Ala413=
ENST00000675793.1:c.*523C>T	ENSP00000502039.1:n.*523C>T
ENST00000676056.1:c.*749C>T	ENSP00000501827.1:n.*749C>T