Canonical Allele Identifier: CA447398380

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148406472A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026909A>C , CM000667.2:g.149026909A>C	GRCh38
NC_000005.9:g.148406472A>C , CM000667.1:g.148406472A>C	GRCh37
NC_000005.8:g.148386665A>C	NCBI36
NG_007947.2:g.41266T>G , LRG_269:g.41266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2719T>G
ENST00000515425.6:c.2823T>G MANE Select	ENSP00000423660.1:p.Leu941=
ENST00000675793.1:c.*2107T>G	ENSP00000502039.1:n.*2107T>G
ENST00000676056.1:c.*2333T>G	ENSP00000501827.1:n.*2333T>G
ENST00000323829.9:c.*2211T>G	ENSP00000313025.5:n.*2211T>G
ENST00000504517.5:c.2353T>G	ENSP00000421779.1:n.2353T>G
ENST00000504690.5:c.2823T>G	ENSP00000425627.1:p.Leu941=
ENST00000510779.1:c.1873T>G
ENST00000511307.5:c.*2603T>G	ENSP00000421420.1:n.*2603T>G
ENST00000512049.5:c.2802T>G	ENSP00000421860.1:p.Leu934=
ENST00000513604.5:c.*2211T>G	ENSP00000423111.1:n.*2211T>G
ENST00000515425.5:c.2823T>G	ENSP00000423660.1:p.Leu941=
NM_024577.3:c.2823T>G , LRG_269t1:c.2823T>G	NP_078853.2:p.Leu941=
NM_024577.4:c.2823T>G MANE Select	NP_078853.2:p.Leu941=