Canonical Allele Identifier: CA361667716

Gene: SH3TC2

Linked Data

• COSMIC: COSM4472553 ; COSM4472554
• MyVariant Identifiers: chr5:g.148407505G>A (hg19) ; chr5:g.149027942G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1686C>T
ENST00000515425.6:c.1790C>T MANE Select	ENSP00000423660.1:p.Ala597Val
ENST00000675793.1:c.*1074C>T	ENSP00000502039.1:n.*1074C>T
ENST00000676056.1:c.*1300C>T	ENSP00000501827.1:n.*1300C>T
ENST00000323829.9:c.*1178C>T	ENSP00000313025.5:n.*1178C>T
ENST00000504517.5:c.1320C>T	ENSP00000421779.1:n.1320C>T
ENST00000504690.5:c.1790C>T	ENSP00000425627.1:p.Ala597Val
ENST00000510779.1:c.840C>T
ENST00000511307.5:c.*1570C>T	ENSP00000421420.1:n.*1570C>T
ENST00000512049.5:c.1769C>T	ENSP00000421860.1:p.Ala590Val
ENST00000513604.5:c.*1178C>T	ENSP00000423111.1:n.*1178C>T
ENST00000515425.5:c.1790C>T	ENSP00000423660.1:p.Ala597Val
NM_024577.3:c.1790C>T , LRG_269t1:c.1790C>T	NP_078853.2:p.Ala597Val
NM_024577.4:c.1790C>T MANE Select	NP_078853.2:p.Ala597Val