Canonical Allele Identifier: CA361672700

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148417940A>T (hg19) ; chr5:g.149038377A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149038377A>T , CM000667.2:g.149038377A>T	GRCh38
NC_000005.9:g.148417940A>T , CM000667.1:g.148417940A>T	GRCh37
NC_000005.8:g.148398133A>T	NCBI36
NG_007947.2:g.29798T>A , LRG_269:g.29798T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.809T>A
ENST00000515425.6:c.919T>A MANE Select	ENSP00000423660.1:p.Trp307Arg
ENST00000674655.1:c.181T>A	ENSP00000502840.1:p.Trp61Arg
ENST00000674983.1:c.*177T>A	ENSP00000502387.1:n.*177T>A
ENST00000675793.1:c.919T>A	ENSP00000502039.1:p.Trp307Arg
ENST00000676056.1:c.*177T>A	ENSP00000501827.1:n.*177T>A
ENST00000323829.9:c.*177T>A	ENSP00000313025.5:n.*177T>A
ENST00000503071.1:n.386T>A
ENST00000504517.5:c.319T>A	ENSP00000421779.1:p.Trp107Arg
ENST00000504690.5:c.919T>A	ENSP00000425627.1:p.Trp307Arg
ENST00000511307.5:c.*699T>A	ENSP00000421420.1:n.*699T>A
ENST00000512049.5:c.898T>A	ENSP00000421860.1:p.Trp300Arg
ENST00000513604.5:c.*177T>A	ENSP00000423111.1:n.*177T>A
ENST00000515425.5:c.919T>A	ENSP00000423660.1:p.Trp307Arg
NM_024577.3:c.919T>A , LRG_269t1:c.919T>A	NP_078853.2:p.Trp307Arg
NM_024577.4:c.919T>A MANE Select	NP_078853.2:p.Trp307Arg