Canonical Allele Identifier: CA3498694

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 952984
• ClinVar RCV Id: RCV001225215
• dbSNP Id: rs200728983
• ExAC: 5:148386607 C / T
• gnomAD v2: 5-148386607-C-T
• gnomAD v3: 5-149007044-C-T
• gnomAD v4: 5-149007044-C-T
• MyVariant Identifiers: chr5:g.148386607C>T (hg19) ; chr5:g.149007044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149007044C>T , CM000667.2:g.149007044C>T	GRCh38
NC_000005.9:g.148386607C>T , CM000667.1:g.148386607C>T	GRCh37
NC_000005.8:g.148366800C>T	NCBI36
NG_007947.2:g.61131G>A , LRG_269:g.61131G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4365G>A
ENST00000515425.6:c.3512G>A MANE Select	ENSP00000423660.1:p.Arg1171His
ENST00000675793.1:c.*4569G>A	ENSP00000502039.1:n.*4569G>A
ENST00000323829.9:c.*2900G>A	ENSP00000313025.5:n.*2900G>A
ENST00000502274.1:c.98G>A	ENSP00000421092.1:p.Arg33His
ENST00000504517.5:c.3034G>A	ENSP00000421779.1:n.3034G>A
ENST00000504690.5:c.3512G>A	ENSP00000425627.1:p.Arg1171His
ENST00000510350.1:n.68G>A
ENST00000510779.1:c.2562G>A
ENST00000512049.5:c.3491G>A	ENSP00000421860.1:p.Arg1164His
ENST00000515229.5:n.174G>A
ENST00000515425.5:c.3512G>A	ENSP00000423660.1:p.Arg1171His
NM_024577.3:c.3512G>A , LRG_269t1:c.3512G>A	NP_078853.2:p.Arg1171His
NM_024577.4:c.3512G>A MANE Select	NP_078853.2:p.Arg1171His