Canonical Allele Identifier: CA3498672

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 624068
• ClinVar RCV Id: RCV000762170 ; RCV001050940 ; RCV001173822 ; RCV002533894
• dbSNP Id: rs143436632
• ExAC: 5:148386508 T / C
• gnomAD v2: 5-148386508-T-C
• gnomAD v3: 5-149006945-T-C
• gnomAD v4: 5-149006945-T-C
• MyVariant Identifiers: chr5:g.148386508T>C (hg19) ; chr5:g.149006945T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006945T>C , CM000667.2:g.149006945T>C	GRCh38
NC_000005.9:g.148386508T>C , CM000667.1:g.148386508T>C	GRCh37
NC_000005.8:g.148366701T>C	NCBI36
NG_007947.2:g.61230A>G , LRG_269:g.61230A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4464A>G
ENST00000515425.6:c.3611A>G MANE Select	ENSP00000423660.1:p.Lys1204Arg
ENST00000675793.1:c.*4668A>G	ENSP00000502039.1:n.*4668A>G
ENST00000323829.9:c.*2999A>G	ENSP00000313025.5:n.*2999A>G
ENST00000502274.1:c.197A>G	ENSP00000421092.1:p.Lys66Arg
ENST00000504517.5:c.3133A>G	ENSP00000421779.1:n.3133A>G
ENST00000504690.5:c.3611A>G	ENSP00000425627.1:p.Lys1204Arg
ENST00000510350.1:n.167A>G
ENST00000510779.1:c.2661A>G
ENST00000512049.5:c.3590A>G	ENSP00000421860.1:p.Lys1197Arg
ENST00000515229.5:n.273A>G
ENST00000515425.5:c.3611A>G	ENSP00000423660.1:p.Lys1204Arg
NM_024577.3:c.3611A>G , LRG_269t1:c.3611A>G	NP_078853.2:p.Lys1204Arg
NM_024577.4:c.3611A>G MANE Select	NP_078853.2:p.Lys1204Arg