Canonical Allele Identifier: CA3499183

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028326G>A , CM000667.2:g.149028326G>A	GRCh38
NC_000005.9:g.148407889G>A , CM000667.1:g.148407889G>A	GRCh37
NC_000005.8:g.148388082G>A	NCBI36
NG_007947.2:g.39849C>T , LRG_269:g.39849C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1406C>T MANE Select	NP_078853.2:p.Pro469Leu
ENST00000515425.6:c.1406C>T MANE Select	ENSP00000423660.1:p.Pro469Leu
NM_024577.3:c.1406C>T , LRG_269t1:c.1406C>T	NP_078853.2:p.Pro469Leu
ENST00000323829.9:c.*794C>T	ENSP00000313025.5:n.*794C>T
ENST00000502274.2:c.1395+31C>T
ENST00000504517.5:c.936C>T	ENSP00000421779.1:n.936C>T
ENST00000504690.5:c.1406C>T	ENSP00000425627.1:p.Pro469Leu
ENST00000510779.1:c.456C>T
ENST00000511307.5:c.*1186C>T	ENSP00000421420.1:n.*1186C>T
ENST00000512049.5:c.1385C>T	ENSP00000421860.1:p.Pro462Leu
ENST00000513604.5:c.*794C>T	ENSP00000423111.1:n.*794C>T
ENST00000515425.5:c.1406C>T	ENSP00000423660.1:p.Pro469Leu
ENST00000675793.1:c.*690C>T	ENSP00000502039.1:n.*690C>T
ENST00000676056.1:c.*916C>T	ENSP00000501827.1:n.*916C>T