Canonical Allele Identifier: CA3499236

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 245683
• ClinVar RCV Id: RCV000235963 ; RCV001079256 ; RCV002338767 ; RCV004541466
• dbSNP Id: rs144764160
• ExAC: 5:148408100 A / G
• gnomAD v2: 5-148408100-A-G
• gnomAD v3: 5-149028537-A-G
• gnomAD v4: 5-149028537-A-G
• MyVariant Identifiers: chr5:g.148408100A>G (hg19) ; chr5:g.149028537A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149028537A>G , CM000667.2:g.149028537A>G	GRCh38
NC_000005.9:g.148408100A>G , CM000667.1:g.148408100A>G	GRCh37
NC_000005.8:g.148388293A>G	NCBI36
NG_007947.2:g.39638T>C , LRG_269:g.39638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1215T>C
ENST00000515425.6:c.1195T>C MANE Select	ENSP00000423660.1:p.Phe399Leu
ENST00000675793.1:c.*479T>C	ENSP00000502039.1:n.*479T>C
ENST00000676056.1:c.*705T>C	ENSP00000501827.1:n.*705T>C
ENST00000323829.9:c.*583T>C	ENSP00000313025.5:n.*583T>C
ENST00000504517.5:c.725T>C	ENSP00000421779.1:n.725T>C
ENST00000504690.5:c.1195T>C	ENSP00000425627.1:p.Phe399Leu
ENST00000510779.1:c.245T>C
ENST00000511307.5:c.*975T>C	ENSP00000421420.1:n.*975T>C
ENST00000512049.5:c.1174T>C	ENSP00000421860.1:p.Phe392Leu
ENST00000513340.1:n.569T>C
ENST00000513604.5:c.*583T>C	ENSP00000423111.1:n.*583T>C
ENST00000515425.5:c.1195T>C	ENSP00000423660.1:p.Phe399Leu
NM_024577.3:c.1195T>C , LRG_269t1:c.1195T>C	NP_078853.2:p.Phe399Leu
NM_024577.4:c.1195T>C MANE Select	NP_078853.2:p.Phe399Leu