Canonical Allele Identifier: CA361667898

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407590C>T (hg19) ; chr5:g.149028027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028027C>T , CM000667.2:g.149028027C>T	GRCh38
NC_000005.9:g.148407590C>T , CM000667.1:g.148407590C>T	GRCh37
NC_000005.8:g.148387783C>T	NCBI36
NG_007947.2:g.40148G>A , LRG_269:g.40148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1601G>A
ENST00000515425.6:c.1705G>A MANE Select	ENSP00000423660.1:p.Ala569Thr
ENST00000675793.1:c.*989G>A	ENSP00000502039.1:n.*989G>A
ENST00000676056.1:c.*1215G>A	ENSP00000501827.1:n.*1215G>A
ENST00000323829.9:c.*1093G>A	ENSP00000313025.5:n.*1093G>A
ENST00000504517.5:c.1235G>A	ENSP00000421779.1:n.1235G>A
ENST00000504690.5:c.1705G>A	ENSP00000425627.1:p.Ala569Thr
ENST00000510779.1:c.755G>A
ENST00000511307.5:c.*1485G>A	ENSP00000421420.1:n.*1485G>A
ENST00000512049.5:c.1684G>A	ENSP00000421860.1:p.Ala562Thr
ENST00000513604.5:c.*1093G>A	ENSP00000423111.1:n.*1093G>A
ENST00000515425.5:c.1705G>A	ENSP00000423660.1:p.Ala569Thr
NM_024577.3:c.1705G>A , LRG_269t1:c.1705G>A	NP_078853.2:p.Ala569Thr
NM_024577.4:c.1705G>A MANE Select	NP_078853.2:p.Ala569Thr