Canonical Allele Identifier: CA361667381

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407340A>C (hg19) ; chr5:g.149027777A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027777A>C , CM000667.2:g.149027777A>C	GRCh38
NC_000005.9:g.148407340A>C , CM000667.1:g.148407340A>C	GRCh37
NC_000005.8:g.148387533A>C	NCBI36
NG_007947.2:g.40398T>G , LRG_269:g.40398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1851T>G
ENST00000515425.6:c.1955T>G MANE Select	ENSP00000423660.1:p.Val652Gly
ENST00000675793.1:c.*1239T>G	ENSP00000502039.1:n.*1239T>G
ENST00000676056.1:c.*1465T>G	ENSP00000501827.1:n.*1465T>G
ENST00000323829.9:c.*1343T>G	ENSP00000313025.5:n.*1343T>G
ENST00000504517.5:c.1485T>G	ENSP00000421779.1:n.1485T>G
ENST00000504690.5:c.1955T>G	ENSP00000425627.1:p.Val652Gly
ENST00000510779.1:c.1005T>G
ENST00000511307.5:c.*1735T>G	ENSP00000421420.1:n.*1735T>G
ENST00000512049.5:c.1934T>G	ENSP00000421860.1:p.Val645Gly
ENST00000513604.5:c.*1343T>G	ENSP00000423111.1:n.*1343T>G
ENST00000515425.5:c.1955T>G	ENSP00000423660.1:p.Val652Gly
NM_024577.3:c.1955T>G , LRG_269t1:c.1955T>G	NP_078853.2:p.Val652Gly
NM_024577.4:c.1955T>G MANE Select	NP_078853.2:p.Val652Gly