Canonical Allele Identifier: CA3498758

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 234910
• ClinVar RCV Id: RCV000554390 ; RCV001155603 ; RCV001173195 ; RCV001155604 ; RCV001697251
• dbSNP Id: rs115577291
• ExAC: 5:148388530 G / A
• gnomAD v2: 5-148388530-G-A
• gnomAD v3: 5-149008967-G-A
• gnomAD v4: 5-149008967-G-A
• MyVariant Identifiers: chr5:g.148388530G>A (hg19) ; chr5:g.149008967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008967G>A , CM000667.2:g.149008967G>A	GRCh38
NC_000005.9:g.148388530G>A , CM000667.1:g.148388530G>A	GRCh37
NC_000005.8:g.148368723G>A	NCBI36
NG_007947.2:g.59208C>T , LRG_269:g.59208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3258C>T
ENST00000515425.6:c.3362C>T MANE Select	ENSP00000423660.1:p.Ala1121Val
ENST00000675793.1:c.*2646C>T	ENSP00000502039.1:n.*2646C>T
ENST00000323829.9:c.*2750C>T	ENSP00000313025.5:n.*2750C>T
ENST00000504517.5:c.2892C>T	ENSP00000421779.1:n.2892C>T
ENST00000504690.5:c.3362C>T	ENSP00000425627.1:p.Ala1121Val
ENST00000510779.1:c.2412C>T
ENST00000512049.5:c.3341C>T	ENSP00000421860.1:p.Ala1114Val
ENST00000515229.5:n.24C>T
ENST00000515425.5:c.3362C>T	ENSP00000423660.1:p.Ala1121Val
NM_024577.3:c.3362C>T , LRG_269t1:c.3362C>T	NP_078853.2:p.Ala1121Val
NM_024577.4:c.3362C>T MANE Select	NP_078853.2:p.Ala1121Val