Canonical Allele Identifier: CA361665376

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406289A>C (hg19) ; chr5:g.149026726A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026726A>C , CM000667.2:g.149026726A>C	GRCh38
NC_000005.9:g.148406289A>C , CM000667.1:g.148406289A>C	GRCh37
NC_000005.8:g.148386482A>C	NCBI36
NG_007947.2:g.41449T>G , LRG_269:g.41449T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2795T>G
ENST00000515425.6:c.2899T>G MANE Select	ENSP00000423660.1:p.Cys967Gly
ENST00000675793.1:c.*2183T>G	ENSP00000502039.1:n.*2183T>G
ENST00000676056.1:c.*2409T>G	ENSP00000501827.1:n.*2409T>G
ENST00000323829.9:c.*2287T>G	ENSP00000313025.5:n.*2287T>G
ENST00000504517.5:c.2429T>G	ENSP00000421779.1:n.2429T>G
ENST00000504690.5:c.2899T>G	ENSP00000425627.1:p.Cys967Gly
ENST00000510779.1:c.1949T>G
ENST00000511307.5:c.*2786T>G	ENSP00000421420.1:n.*2786T>G
ENST00000512049.5:c.2878T>G	ENSP00000421860.1:p.Cys960Gly
ENST00000513604.5:c.*2394T>G	ENSP00000423111.1:n.*2394T>G
ENST00000515425.5:c.2899T>G	ENSP00000423660.1:p.Cys967Gly
NM_024577.3:c.2899T>G , LRG_269t1:c.2899T>G	NP_078853.2:p.Cys967Gly
NM_024577.4:c.2899T>G MANE Select	NP_078853.2:p.Cys967Gly