Canonical Allele Identifier: CA3499088

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351908
• ClinVar RCV Id: RCV000268641 ; RCV000360932 ; RCV001030761 ; RCV001706582 ; RCV001095110
• dbSNP Id: rs537049075
• ExAC: 5:148407353 G / A
• gnomAD v2: 5-148407353-G-A
• gnomAD v3: 5-149027790-G-A
• gnomAD v4: 5-149027790-G-A
• MyVariant Identifiers: chr5:g.148407353G>A (hg19) ; chr5:g.149027790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027790G>A , CM000667.2:g.149027790G>A	GRCh38
NC_000005.9:g.148407353G>A , CM000667.1:g.148407353G>A	GRCh37
NC_000005.8:g.148387546G>A	NCBI36
NG_007947.2:g.40385C>T , LRG_269:g.40385C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1838C>T
ENST00000515425.6:c.1942C>T MANE Select	ENSP00000423660.1:p.Arg648Trp
ENST00000675793.1:c.*1226C>T	ENSP00000502039.1:n.*1226C>T
ENST00000676056.1:c.*1452C>T	ENSP00000501827.1:n.*1452C>T
ENST00000323829.9:c.*1330C>T	ENSP00000313025.5:n.*1330C>T
ENST00000504517.5:c.1472C>T	ENSP00000421779.1:n.1472C>T
ENST00000504690.5:c.1942C>T	ENSP00000425627.1:p.Arg648Trp
ENST00000510779.1:c.992C>T
ENST00000511307.5:c.*1722C>T	ENSP00000421420.1:n.*1722C>T
ENST00000512049.5:c.1921C>T	ENSP00000421860.1:p.Arg641Trp
ENST00000513604.5:c.*1330C>T	ENSP00000423111.1:n.*1330C>T
ENST00000515425.5:c.1942C>T	ENSP00000423660.1:p.Arg648Trp
NM_024577.3:c.1942C>T , LRG_269t1:c.1942C>T	NP_078853.2:p.Arg648Trp
NM_024577.4:c.1942C>T MANE Select	NP_078853.2:p.Arg648Trp