Canonical Allele Identifier: CA361672119

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149038294C>T , CM000667.2:g.149038294C>T	GRCh38
NC_000005.9:g.148417857C>T , CM000667.1:g.148417857C>T	GRCh37
NC_000005.8:g.148398050C>T	NCBI36
NG_007947.2:g.29881G>A , LRG_269:g.29881G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1001+1G>A MANE Select	NP_078853.2:n.1001+1G>A
ENST00000515425.6:c.1001+1G>A MANE Select	ENSP00000423660.1:n.1001+1G>A
NM_024577.3:c.1001+1G>A , LRG_269t1:c.1001+1G>A	NP_078853.2:n.1001+1G>A
ENST00000323829.9:c.*259+1G>A	ENSP00000313025.5:n.*259+1G>A
ENST00000502274.2:c.891+1G>A
ENST00000503071.1:n.468+1G>A
ENST00000504517.5:c.401+1G>A	ENSP00000421779.1:n.401+1G>A
ENST00000504690.5:c.1001+1G>A	ENSP00000425627.1:n.1001+1G>A
ENST00000511307.5:c.*781+1G>A	ENSP00000421420.1:n.*781+1G>A
ENST00000512049.5:c.980+1G>A	ENSP00000421860.1:n.980+1G>A
ENST00000513604.5:c.*259+1G>A	ENSP00000423111.1:n.*259+1G>A
ENST00000515425.5:c.1001+1G>A	ENSP00000423660.1:n.1001+1G>A
ENST00000674655.1:c.263+1G>A	ENSP00000502840.1:n.263+1G>A
ENST00000674983.1:c.*259+1G>A	ENSP00000502387.1:n.*259+1G>A
ENST00000675793.1:c.1001+1G>A	ENSP00000502039.1:n.1001+1G>A
ENST00000676056.1:c.*259+1G>A	ENSP00000501827.1:n.*259+1G>A