Canonical Allele Identifier: CA447111130

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148388514G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008951G>A , CM000667.2:g.149008951G>A	GRCh38
NC_000005.9:g.148388514G>A , CM000667.1:g.148388514G>A	GRCh37
NC_000005.8:g.148368707G>A	NCBI36
NG_007947.2:g.59224C>T , LRG_269:g.59224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3274C>T
ENST00000515425.6:c.3378C>T MANE Select	ENSP00000423660.1:p.Leu1126=
ENST00000675793.1:c.*2662C>T	ENSP00000502039.1:n.*2662C>T
ENST00000323829.9:c.*2766C>T	ENSP00000313025.5:n.*2766C>T
ENST00000504517.5:c.2908C>T	ENSP00000421779.1:n.2908C>T
ENST00000504690.5:c.3378C>T	ENSP00000425627.1:p.Leu1126=
ENST00000510779.1:c.2428C>T
ENST00000512049.5:c.3357C>T	ENSP00000421860.1:p.Leu1119=
ENST00000515229.5:n.40C>T
ENST00000515425.5:c.3378C>T	ENSP00000423660.1:p.Leu1126=
NM_024577.3:c.3378C>T , LRG_269t1:c.3378C>T	NP_078853.2:p.Leu1126=
NM_024577.4:c.3378C>T MANE Select	NP_078853.2:p.Leu1126=