Canonical Allele Identifier: CA361665040

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406133A>T (hg19) ; chr5:g.149026570A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026570A>T , CM000667.2:g.149026570A>T	GRCh38
NC_000005.9:g.148406133A>T , CM000667.1:g.148406133A>T	GRCh37
NC_000005.8:g.148386326A>T	NCBI36
NG_007947.2:g.41605T>A , LRG_269:g.41605T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2949+2T>A
ENST00000515425.6:c.3053+2T>A MANE Select	ENSP00000423660.1:n.3053+2T>A
ENST00000675793.1:c.*2337+2T>A	ENSP00000502039.1:n.*2337+2T>A
ENST00000676056.1:c.*2563+2T>A	ENSP00000501827.1:n.*2563+2T>A
ENST00000323829.9:c.*2441+2T>A	ENSP00000313025.5:n.*2441+2T>A
ENST00000504517.5:c.2583+2T>A	ENSP00000421779.1:n.2583+2T>A
ENST00000504690.5:c.3053+2T>A	ENSP00000425627.1:n.3053+2T>A
ENST00000510779.1:c.2103+2T>A
ENST00000511307.5:c.*2942T>A	ENSP00000421420.1:n.*2942T>A
ENST00000512049.5:c.3032+2T>A	ENSP00000421860.1:n.3032+2T>A
ENST00000513604.5:c.*2550T>A	ENSP00000423111.1:n.*2550T>A
ENST00000515425.5:c.3053+2T>A	ENSP00000423660.1:n.3053+2T>A
NM_024577.3:c.3053+2T>A , LRG_269t1:c.3053+2T>A	NP_078853.2:n.3053+2T>A
NM_024577.4:c.3053+2T>A MANE Select	NP_078853.2:n.3053+2T>A