Canonical Allele Identifier: CA361667100

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1370752
• ClinVar RCV Id: RCV001864358
• dbSNP Id: rs2127397326
• MyVariant Identifiers: chr5:g.148407205C>A (hg19) ; chr5:g.149027642C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027642C>A , CM000667.2:g.149027642C>A	GRCh38
NC_000005.9:g.148407205C>A , CM000667.1:g.148407205C>A	GRCh37
NC_000005.8:g.148387398C>A	NCBI36
NG_007947.2:g.40533G>T , LRG_269:g.40533G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1986G>T
ENST00000515425.6:c.2090G>T MANE Select	ENSP00000423660.1:p.Gly697Val
ENST00000675793.1:c.*1374G>T	ENSP00000502039.1:n.*1374G>T
ENST00000676056.1:c.*1600G>T	ENSP00000501827.1:n.*1600G>T
ENST00000323829.9:c.*1478G>T	ENSP00000313025.5:n.*1478G>T
ENST00000504517.5:c.1620G>T	ENSP00000421779.1:n.1620G>T
ENST00000504690.5:c.2090G>T	ENSP00000425627.1:p.Gly697Val
ENST00000510779.1:c.1140G>T
ENST00000511307.5:c.*1870G>T	ENSP00000421420.1:n.*1870G>T
ENST00000512049.5:c.2069G>T	ENSP00000421860.1:p.Gly690Val
ENST00000513604.5:c.*1478G>T	ENSP00000423111.1:n.*1478G>T
ENST00000515425.5:c.2090G>T	ENSP00000423660.1:p.Gly697Val
NM_024577.3:c.2090G>T , LRG_269t1:c.2090G>T	NP_078853.2:p.Gly697Val
NM_024577.4:c.2090G>T MANE Select	NP_078853.2:p.Gly697Val