Canonical Allele Identifier: CA447399763

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407522C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027959C>T , CM000667.2:g.149027959C>T	GRCh38
NC_000005.9:g.148407522C>T , CM000667.1:g.148407522C>T	GRCh37
NC_000005.8:g.148387715C>T	NCBI36
NG_007947.2:g.40216G>A , LRG_269:g.40216G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1669G>A
ENST00000515425.6:c.1773G>A MANE Select	ENSP00000423660.1:p.Leu591=
ENST00000675793.1:c.*1057G>A	ENSP00000502039.1:n.*1057G>A
ENST00000676056.1:c.*1283G>A	ENSP00000501827.1:n.*1283G>A
ENST00000323829.9:c.*1161G>A	ENSP00000313025.5:n.*1161G>A
ENST00000504517.5:c.1303G>A	ENSP00000421779.1:n.1303G>A
ENST00000504690.5:c.1773G>A	ENSP00000425627.1:p.Leu591=
ENST00000510779.1:c.823G>A
ENST00000511307.5:c.*1553G>A	ENSP00000421420.1:n.*1553G>A
ENST00000512049.5:c.1752G>A	ENSP00000421860.1:p.Leu584=
ENST00000513604.5:c.*1161G>A	ENSP00000423111.1:n.*1161G>A
ENST00000515425.5:c.1773G>A	ENSP00000423660.1:p.Leu591=
NM_024577.3:c.1773G>A , LRG_269t1:c.1773G>A	NP_078853.2:p.Leu591=
NM_024577.4:c.1773G>A MANE Select	NP_078853.2:p.Leu591=