Canonical Allele Identifier: CA447110914

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1629694
• ClinVar RCV Id: RCV002118500
• dbSNP Id: rs2127392467
• MyVariant Identifiers: chr5:g.148388454C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008891C>T , CM000667.2:g.149008891C>T	GRCh38
NC_000005.9:g.148388454C>T , CM000667.1:g.148388454C>T	GRCh37
NC_000005.8:g.148368647C>T	NCBI36
NG_007947.2:g.59284G>A , LRG_269:g.59284G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.3334G>A
ENST00000515425.6:c.3438G>A MANE Select	ENSP00000423660.1:p.Leu1146=
ENST00000675793.1:c.*2722G>A	ENSP00000502039.1:n.*2722G>A
ENST00000323829.9:c.*2826G>A	ENSP00000313025.5:n.*2826G>A
ENST00000504517.5:c.2968G>A	ENSP00000421779.1:n.2968G>A
ENST00000504690.5:c.3438G>A	ENSP00000425627.1:p.Leu1146=
ENST00000510779.1:c.2488G>A
ENST00000512049.5:c.3417G>A	ENSP00000421860.1:p.Leu1139=
ENST00000515229.5:n.100G>A
ENST00000515425.5:c.3438G>A	ENSP00000423660.1:p.Leu1146=
NM_024577.3:c.3438G>A , LRG_269t1:c.3438G>A	NP_078853.2:p.Leu1146=
NM_024577.4:c.3438G>A MANE Select	NP_078853.2:p.Leu1146=