Canonical Allele Identifier: CA361665557

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406474G>A (hg19) ; chr5:g.149026911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026911G>A , CM000667.2:g.149026911G>A	GRCh38
NC_000005.9:g.148406474G>A , CM000667.1:g.148406474G>A	GRCh37
NC_000005.8:g.148386667G>A	NCBI36
NG_007947.2:g.41264C>T , LRG_269:g.41264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2717C>T
ENST00000515425.6:c.2821C>T MANE Select	ENSP00000423660.1:p.Leu941Phe
ENST00000675793.1:c.*2105C>T	ENSP00000502039.1:n.*2105C>T
ENST00000676056.1:c.*2331C>T	ENSP00000501827.1:n.*2331C>T
ENST00000323829.9:c.*2209C>T	ENSP00000313025.5:n.*2209C>T
ENST00000504517.5:c.2351C>T	ENSP00000421779.1:n.2351C>T
ENST00000504690.5:c.2821C>T	ENSP00000425627.1:p.Leu941Phe
ENST00000510779.1:c.1871C>T
ENST00000511307.5:c.*2601C>T	ENSP00000421420.1:n.*2601C>T
ENST00000512049.5:c.2800C>T	ENSP00000421860.1:p.Leu934Phe
ENST00000513604.5:c.*2209C>T	ENSP00000423111.1:n.*2209C>T
ENST00000515425.5:c.2821C>T	ENSP00000423660.1:p.Leu941Phe
NM_024577.3:c.2821C>T , LRG_269t1:c.2821C>T	NP_078853.2:p.Leu941Phe
NM_024577.4:c.2821C>T MANE Select	NP_078853.2:p.Leu941Phe