Canonical Allele Identifier: CA361674415

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149041489C>T , CM000667.2:g.149041489C>T	GRCh38
NC_000005.9:g.148421052C>T , CM000667.1:g.148421052C>T	GRCh37
NC_000005.8:g.148401245C>T	NCBI36
NG_007947.2:g.26686G>A , LRG_269:g.26686G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.658G>A MANE Select	NP_078853.2:p.Val220Met
ENST00000515425.6:c.658G>A MANE Select	ENSP00000423660.1:p.Val220Met
NM_024577.3:c.658G>A , LRG_269t1:c.658G>A	NP_078853.2:p.Val220Met
ENST00000323829.9:c.658G>A	ENSP00000313025.5:p.Val220Met
ENST00000502274.2:c.606G>A
ENST00000503071.1:n.183G>A
ENST00000504517.5:c.58G>A	ENSP00000421779.1:p.Val20Met
ENST00000504690.5:c.658G>A	ENSP00000425627.1:p.Val220Met
ENST00000511307.5:c.*438G>A	ENSP00000421420.1:n.*438G>A
ENST00000512049.5:c.637G>A	ENSP00000421860.1:p.Val213Met
ENST00000513604.5:c.658G>A	ENSP00000423111.1:p.Val220Met
ENST00000515425.5:c.658G>A	ENSP00000423660.1:p.Val220Met
ENST00000674983.1:c.658G>A	ENSP00000502387.1:p.Val220Met
ENST00000675793.1:c.658G>A	ENSP00000502039.1:p.Val220Met
ENST00000676056.1:c.658G>A	ENSP00000501827.1:p.Val220Met
ENST00000676367.1:n.274G>A