Canonical Allele Identifier: CA361667219

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407261A>C (hg19) ; chr5:g.149027698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027698A>C , CM000667.2:g.149027698A>C	GRCh38
NC_000005.9:g.148407261A>C , CM000667.1:g.148407261A>C	GRCh37
NC_000005.8:g.148387454A>C	NCBI36
NG_007947.2:g.40477T>G , LRG_269:g.40477T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1930T>G
ENST00000515425.6:c.2034T>G MANE Select	ENSP00000423660.1:p.Phe678Leu
ENST00000675793.1:c.*1318T>G	ENSP00000502039.1:n.*1318T>G
ENST00000676056.1:c.*1544T>G	ENSP00000501827.1:n.*1544T>G
ENST00000323829.9:c.*1422T>G	ENSP00000313025.5:n.*1422T>G
ENST00000504517.5:c.1564T>G	ENSP00000421779.1:n.1564T>G
ENST00000504690.5:c.2034T>G	ENSP00000425627.1:p.Phe678Leu
ENST00000510779.1:c.1084T>G
ENST00000511307.5:c.*1814T>G	ENSP00000421420.1:n.*1814T>G
ENST00000512049.5:c.2013T>G	ENSP00000421860.1:p.Phe671Leu
ENST00000513604.5:c.*1422T>G	ENSP00000423111.1:n.*1422T>G
ENST00000515425.5:c.2034T>G	ENSP00000423660.1:p.Phe678Leu
NM_024577.3:c.2034T>G , LRG_269t1:c.2034T>G	NP_078853.2:p.Phe678Leu
NM_024577.4:c.2034T>G MANE Select	NP_078853.2:p.Phe678Leu