Canonical Allele Identifier: CA361665165

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406194C>A (hg19) ; chr5:g.149026631C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026631C>A , CM000667.2:g.149026631C>A	GRCh38
NC_000005.9:g.148406194C>A , CM000667.1:g.148406194C>A	GRCh37
NC_000005.8:g.148386387C>A	NCBI36
NG_007947.2:g.41544G>T , LRG_269:g.41544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2890G>T
ENST00000515425.6:c.2994G>T MANE Select	ENSP00000423660.1:p.Glu998Asp
ENST00000675793.1:c.*2278G>T	ENSP00000502039.1:n.*2278G>T
ENST00000676056.1:c.*2504G>T	ENSP00000501827.1:n.*2504G>T
ENST00000323829.9:c.*2382G>T	ENSP00000313025.5:n.*2382G>T
ENST00000504517.5:c.2524G>T	ENSP00000421779.1:n.2524G>T
ENST00000504690.5:c.2994G>T	ENSP00000425627.1:p.Glu998Asp
ENST00000510779.1:c.2044G>T
ENST00000511307.5:c.*2881G>T	ENSP00000421420.1:n.*2881G>T
ENST00000512049.5:c.2973G>T	ENSP00000421860.1:p.Glu991Asp
ENST00000513604.5:c.*2489G>T	ENSP00000423111.1:n.*2489G>T
ENST00000515425.5:c.2994G>T	ENSP00000423660.1:p.Glu998Asp
NM_024577.3:c.2994G>T , LRG_269t1:c.2994G>T	NP_078853.2:p.Glu998Asp
NM_024577.4:c.2994G>T MANE Select	NP_078853.2:p.Glu998Asp