Canonical Allele Identifier: CA3499346

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149038361G>A , CM000667.2:g.149038361G>A	GRCh38
NC_000005.9:g.148417924G>A , CM000667.1:g.148417924G>A	GRCh37
NC_000005.8:g.148398117G>A	NCBI36
NG_007947.2:g.29814C>T , LRG_269:g.29814C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.935C>T MANE Select	NP_078853.2:p.Ser312Leu
ENST00000515425.6:c.935C>T MANE Select	ENSP00000423660.1:p.Ser312Leu
NM_024577.3:c.935C>T , LRG_269t1:c.935C>T	NP_078853.2:p.Ser312Leu
ENST00000323829.9:c.*193C>T	ENSP00000313025.5:n.*193C>T
ENST00000502274.2:c.825C>T
ENST00000503071.1:n.402C>T
ENST00000504517.5:c.335C>T	ENSP00000421779.1:p.Ser112Leu
ENST00000504690.5:c.935C>T	ENSP00000425627.1:p.Ser312Leu
ENST00000511307.5:c.*715C>T	ENSP00000421420.1:n.*715C>T
ENST00000512049.5:c.914C>T	ENSP00000421860.1:p.Ser305Leu
ENST00000513604.5:c.*193C>T	ENSP00000423111.1:n.*193C>T
ENST00000515425.5:c.935C>T	ENSP00000423660.1:p.Ser312Leu
ENST00000674655.1:c.197C>T	ENSP00000502840.1:p.Ser66Leu
ENST00000674983.1:c.*193C>T	ENSP00000502387.1:n.*193C>T
ENST00000675793.1:c.935C>T	ENSP00000502039.1:p.Ser312Leu
ENST00000676056.1:c.*193C>T	ENSP00000501827.1:n.*193C>T