Canonical Allele Identifier: CA361665095

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1501344
• ClinVar RCV Id: RCV002017397
• dbSNP Id: rs1243271992
• MyVariant Identifiers: chr5:g.148406160G>A (hg19) ; chr5:g.149026597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026597G>A , CM000667.2:g.149026597G>A	GRCh38
NC_000005.9:g.148406160G>A , CM000667.1:g.148406160G>A	GRCh37
NC_000005.8:g.148386353G>A	NCBI36
NG_007947.2:g.41578C>T , LRG_269:g.41578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2924C>T
ENST00000515425.6:c.3028C>T MANE Select	ENSP00000423660.1:p.Leu1010Phe
ENST00000675793.1:c.*2312C>T	ENSP00000502039.1:n.*2312C>T
ENST00000676056.1:c.*2538C>T	ENSP00000501827.1:n.*2538C>T
ENST00000323829.9:c.*2416C>T	ENSP00000313025.5:n.*2416C>T
ENST00000504517.5:c.2558C>T	ENSP00000421779.1:n.2558C>T
ENST00000504690.5:c.3028C>T	ENSP00000425627.1:p.Leu1010Phe
ENST00000510779.1:c.2078C>T
ENST00000511307.5:c.*2915C>T	ENSP00000421420.1:n.*2915C>T
ENST00000512049.5:c.3007C>T	ENSP00000421860.1:p.Leu1003Phe
ENST00000513604.5:c.*2523C>T	ENSP00000423111.1:n.*2523C>T
ENST00000515425.5:c.3028C>T	ENSP00000423660.1:p.Leu1010Phe
NM_024577.3:c.3028C>T , LRG_269t1:c.3028C>T	NP_078853.2:p.Leu1010Phe
NM_024577.4:c.3028C>T MANE Select	NP_078853.2:p.Leu1010Phe