Canonical Allele Identifier: CA361665263

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406239G>T (hg19) ; chr5:g.149026676G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026676G>T , CM000667.2:g.149026676G>T	GRCh38
NC_000005.9:g.148406239G>T , CM000667.1:g.148406239G>T	GRCh37
NC_000005.8:g.148386432G>T	NCBI36
NG_007947.2:g.41499C>A , LRG_269:g.41499C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2845C>A
ENST00000515425.6:c.2949C>A MANE Select	ENSP00000423660.1:p.Tyr983Ter
ENST00000675793.1:c.*2233C>A	ENSP00000502039.1:n.*2233C>A
ENST00000676056.1:c.*2459C>A	ENSP00000501827.1:n.*2459C>A
ENST00000323829.9:c.*2337C>A	ENSP00000313025.5:n.*2337C>A
ENST00000504517.5:c.2479C>A	ENSP00000421779.1:n.2479C>A
ENST00000504690.5:c.2949C>A	ENSP00000425627.1:p.Tyr983Ter
ENST00000510779.1:c.1999C>A
ENST00000511307.5:c.*2836C>A	ENSP00000421420.1:n.*2836C>A
ENST00000512049.5:c.2928C>A	ENSP00000421860.1:p.Tyr976Ter
ENST00000513604.5:c.*2444C>A	ENSP00000423111.1:n.*2444C>A
ENST00000515425.5:c.2949C>A	ENSP00000423660.1:p.Tyr983Ter
NM_024577.3:c.2949C>A , LRG_269t1:c.2949C>A	NP_078853.2:p.Tyr983Ter
NM_024577.4:c.2949C>A MANE Select	NP_078853.2:p.Tyr983Ter