Canonical Allele Identifier: CA361664656

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 637412
• ClinVar RCV Id: RCV000789573 ; RCV001044556 ; RCV002458407 ; RCV003330952
• dbSNP Id: rs1580888993
• gnomAD v4: 5-149008950-G-A
• COSMIC: COSM5655524
• MyVariant Identifiers: chr5:g.148388513G>A (hg19) ; chr5:g.149008950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008950G>A , CM000667.2:g.149008950G>A	GRCh38
NC_000005.9:g.148388513G>A , CM000667.1:g.148388513G>A	GRCh37
NC_000005.8:g.148368706G>A	NCBI36
NG_007947.2:g.59225C>T , LRG_269:g.59225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3275C>T
ENST00000515425.6:c.3379C>T MANE Select	ENSP00000423660.1:p.Arg1127Trp
ENST00000675793.1:c.*2663C>T	ENSP00000502039.1:n.*2663C>T
ENST00000323829.9:c.*2767C>T	ENSP00000313025.5:n.*2767C>T
ENST00000504517.5:c.2909C>T	ENSP00000421779.1:n.2909C>T
ENST00000504690.5:c.3379C>T	ENSP00000425627.1:p.Arg1127Trp
ENST00000510779.1:c.2429C>T
ENST00000512049.5:c.3358C>T	ENSP00000421860.1:p.Arg1120Trp
ENST00000515229.5:n.41C>T
ENST00000515425.5:c.3379C>T	ENSP00000423660.1:p.Arg1127Trp
NM_024577.3:c.3379C>T , LRG_269t1:c.3379C>T	NP_078853.2:p.Arg1127Trp
NM_024577.4:c.3379C>T MANE Select	NP_078853.2:p.Arg1127Trp