Canonical Allele Identifier: CA447108012

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406220G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026657G>A , CM000667.2:g.149026657G>A	GRCh38
NC_000005.9:g.148406220G>A , CM000667.1:g.148406220G>A	GRCh37
NC_000005.8:g.148386413G>A	NCBI36
NG_007947.2:g.41518C>T , LRG_269:g.41518C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2864C>T
ENST00000515425.6:c.2968C>T MANE Select	ENSP00000423660.1:p.Leu990=
ENST00000675793.1:c.*2252C>T	ENSP00000502039.1:n.*2252C>T
ENST00000676056.1:c.*2478C>T	ENSP00000501827.1:n.*2478C>T
ENST00000323829.9:c.*2356C>T	ENSP00000313025.5:n.*2356C>T
ENST00000504517.5:c.2498C>T	ENSP00000421779.1:n.2498C>T
ENST00000504690.5:c.2968C>T	ENSP00000425627.1:p.Leu990=
ENST00000510779.1:c.2018C>T
ENST00000511307.5:c.*2855C>T	ENSP00000421420.1:n.*2855C>T
ENST00000512049.5:c.2947C>T	ENSP00000421860.1:p.Leu983=
ENST00000513604.5:c.*2463C>T	ENSP00000423111.1:n.*2463C>T
ENST00000515425.5:c.2968C>T	ENSP00000423660.1:p.Leu990=
NM_024577.3:c.2968C>T , LRG_269t1:c.2968C>T	NP_078853.2:p.Leu990=
NM_024577.4:c.2968C>T MANE Select	NP_078853.2:p.Leu990=