Canonical Allele Identifier: CA361664578

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148388477G>T (hg19) ; chr5:g.149008914G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008914G>T , CM000667.2:g.149008914G>T	GRCh38
NC_000005.9:g.148388477G>T , CM000667.1:g.148388477G>T	GRCh37
NC_000005.8:g.148368670G>T	NCBI36
NG_007947.2:g.59261C>A , LRG_269:g.59261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3311C>A
ENST00000515425.6:c.3415C>A MANE Select	ENSP00000423660.1:p.Leu1139Ile
ENST00000675793.1:c.*2699C>A	ENSP00000502039.1:n.*2699C>A
ENST00000323829.9:c.*2803C>A	ENSP00000313025.5:n.*2803C>A
ENST00000504517.5:c.2945C>A	ENSP00000421779.1:n.2945C>A
ENST00000504690.5:c.3415C>A	ENSP00000425627.1:p.Leu1139Ile
ENST00000510779.1:c.2465C>A
ENST00000512049.5:c.3394C>A	ENSP00000421860.1:p.Leu1132Ile
ENST00000515229.5:n.77C>A
ENST00000515425.5:c.3415C>A	ENSP00000423660.1:p.Leu1139Ile
NM_024577.3:c.3415C>A , LRG_269t1:c.3415C>A	NP_078853.2:p.Leu1139Ile
NM_024577.4:c.3415C>A MANE Select	NP_078853.2:p.Leu1139Ile