Canonical Allele Identifier: CA361664773

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149010269C>T , CM000667.2:g.149010269C>T	GRCh38
NC_000005.9:g.148389832C>T , CM000667.1:g.148389832C>T	GRCh37
NC_000005.8:g.148370025C>T	NCBI36
NG_007947.2:g.57906G>A , LRG_269:g.57906G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.3327+1G>A MANE Select	NP_078853.2:n.3327+1G>A
ENST00000515425.6:c.3327+1G>A MANE Select	ENSP00000423660.1:n.3327+1G>A
NM_024577.3:c.3327+1G>A , LRG_269t1:c.3327+1G>A	NP_078853.2:n.3327+1G>A
ENST00000323829.9:c.*2715+1G>A	ENSP00000313025.5:n.*2715+1G>A
ENST00000502274.2:c.3223+1G>A
ENST00000504517.5:c.2857+1G>A	ENSP00000421779.1:n.2857+1G>A
ENST00000504690.5:c.3327+1G>A	ENSP00000425627.1:n.3327+1G>A
ENST00000510779.1:c.2377+1G>A
ENST00000512049.5:c.3306+1G>A	ENSP00000421860.1:n.3306+1G>A
ENST00000515425.5:c.3327+1G>A	ENSP00000423660.1:n.3327+1G>A
ENST00000675793.1:c.*2611+1G>A	ENSP00000502039.1:n.*2611+1G>A