Canonical Allele Identifier: CA361667718

Gene: SH3TC2

Linked Data

• COSMIC: COSM6276633 ; COSM6276634
• MyVariant Identifiers: chr5:g.148407505G>T (hg19) ; chr5:g.149027942G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027942G>T , CM000667.2:g.149027942G>T	GRCh38
NC_000005.9:g.148407505G>T , CM000667.1:g.148407505G>T	GRCh37
NC_000005.8:g.148387698G>T	NCBI36
NG_007947.2:g.40233C>A , LRG_269:g.40233C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1686C>A
ENST00000515425.6:c.1790C>A MANE Select	ENSP00000423660.1:p.Ala597Asp
ENST00000675793.1:c.*1074C>A	ENSP00000502039.1:n.*1074C>A
ENST00000676056.1:c.*1300C>A	ENSP00000501827.1:n.*1300C>A
ENST00000323829.9:c.*1178C>A	ENSP00000313025.5:n.*1178C>A
ENST00000504517.5:c.1320C>A	ENSP00000421779.1:n.1320C>A
ENST00000504690.5:c.1790C>A	ENSP00000425627.1:p.Ala597Asp
ENST00000510779.1:c.840C>A
ENST00000511307.5:c.*1570C>A	ENSP00000421420.1:n.*1570C>A
ENST00000512049.5:c.1769C>A	ENSP00000421860.1:p.Ala590Asp
ENST00000513604.5:c.*1178C>A	ENSP00000423111.1:n.*1178C>A
ENST00000515425.5:c.1790C>A	ENSP00000423660.1:p.Ala597Asp
NM_024577.3:c.1790C>A , LRG_269t1:c.1790C>A	NP_078853.2:p.Ala597Asp
NM_024577.4:c.1790C>A MANE Select	NP_078853.2:p.Ala597Asp