Canonical Allele Identifier: CA3498964

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 476901
• ClinVar RCV Id: RCV000534509 ; RCV000998462 ; RCV001173819 ; RCV002431715 ; RCV003387882
• dbSNP Id: rs142971473
• ExAC: 5:148406713 C / T
• gnomAD v2: 5-148406713-C-T
• gnomAD v3: 5-149027150-C-T
• gnomAD v4: 5-149027150-C-T
• MyVariant Identifiers: chr5:g.148406713C>T (hg19) ; chr5:g.149027150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027150C>T , CM000667.2:g.149027150C>T	GRCh38
NC_000005.9:g.148406713C>T , CM000667.1:g.148406713C>T	GRCh37
NC_000005.8:g.148386906C>T	NCBI36
NG_007947.2:g.41025G>A , LRG_269:g.41025G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2478G>A
ENST00000515425.6:c.2582G>A MANE Select	ENSP00000423660.1:p.Arg861Gln
ENST00000675793.1:c.*1866G>A	ENSP00000502039.1:n.*1866G>A
ENST00000676056.1:c.*2092G>A	ENSP00000501827.1:n.*2092G>A
ENST00000323829.9:c.*1970G>A	ENSP00000313025.5:n.*1970G>A
ENST00000504517.5:c.2112G>A	ENSP00000421779.1:n.2112G>A
ENST00000504690.5:c.2582G>A	ENSP00000425627.1:p.Arg861Gln
ENST00000510779.1:c.1632G>A
ENST00000511307.5:c.*2362G>A	ENSP00000421420.1:n.*2362G>A
ENST00000512049.5:c.2561G>A	ENSP00000421860.1:p.Arg854Gln
ENST00000513604.5:c.*1970G>A	ENSP00000423111.1:n.*1970G>A
ENST00000515425.5:c.2582G>A	ENSP00000423660.1:p.Arg861Gln
NM_024577.3:c.2582G>A , LRG_269t1:c.2582G>A	NP_078853.2:p.Arg861Gln
NM_024577.4:c.2582G>A MANE Select	NP_078853.2:p.Arg861Gln