Canonical Allele Identifier: CA447399677

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028672C>T , CM000667.2:g.149028672C>T	GRCh38
NC_000005.9:g.148408235C>T , CM000667.1:g.148408235C>T	GRCh37
NC_000005.8:g.148388428C>T	NCBI36
NG_007947.2:g.39503G>A , LRG_269:g.39503G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1177+5G>A MANE Select	NP_078853.2:n.1177+5G>A
ENST00000515425.6:c.1177+5G>A MANE Select	ENSP00000423660.1:n.1177+5G>A
NM_024577.3:c.1177+5G>A , LRG_269t1:c.1177+5G>A	NP_078853.2:n.1177+5G>A
ENST00000323829.9:c.*565+5G>A	ENSP00000313025.5:n.*565+5G>A
ENST00000502274.2:c.1197+5G>A
ENST00000504517.5:c.707+5G>A	ENSP00000421779.1:n.707+5G>A
ENST00000504690.5:c.1177+5G>A	ENSP00000425627.1:n.1177+5G>A
ENST00000510779.1:c.110G>A
ENST00000511307.5:c.*957+5G>A	ENSP00000421420.1:n.*957+5G>A
ENST00000512049.5:c.1156+5G>A	ENSP00000421860.1:n.1156+5G>A
ENST00000513340.1:n.551+5G>A
ENST00000513604.5:c.*565+5G>A	ENSP00000423111.1:n.*565+5G>A
ENST00000515425.5:c.1177+5G>A	ENSP00000423660.1:n.1177+5G>A
ENST00000675793.1:c.*461+5G>A	ENSP00000502039.1:n.*461+5G>A
ENST00000676056.1:c.*570G>A	ENSP00000501827.1:n.*570G>A