Canonical Allele Identifier: CA361667418

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1224242015
• gnomAD v2: 5-148407358-A-C
• gnomAD v3: 5-149027795-A-C
• gnomAD v4: 5-149027795-A-C
• MyVariant Identifiers: chr5:g.148407358A>C (hg19) ; chr5:g.149027795A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027795A>C , CM000667.2:g.149027795A>C	GRCh38
NC_000005.9:g.148407358A>C , CM000667.1:g.148407358A>C	GRCh37
NC_000005.8:g.148387551A>C	NCBI36
NG_007947.2:g.40380T>G , LRG_269:g.40380T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1833T>G
ENST00000515425.6:c.1937T>G MANE Select	ENSP00000423660.1:p.Leu646Arg
ENST00000675793.1:c.*1221T>G	ENSP00000502039.1:n.*1221T>G
ENST00000676056.1:c.*1447T>G	ENSP00000501827.1:n.*1447T>G
ENST00000323829.9:c.*1325T>G	ENSP00000313025.5:n.*1325T>G
ENST00000504517.5:c.1467T>G	ENSP00000421779.1:n.1467T>G
ENST00000504690.5:c.1937T>G	ENSP00000425627.1:p.Leu646Arg
ENST00000510779.1:c.987T>G
ENST00000511307.5:c.*1717T>G	ENSP00000421420.1:n.*1717T>G
ENST00000512049.5:c.1916T>G	ENSP00000421860.1:p.Leu639Arg
ENST00000513604.5:c.*1325T>G	ENSP00000423111.1:n.*1325T>G
ENST00000515425.5:c.1937T>G	ENSP00000423660.1:p.Leu646Arg
NM_024577.3:c.1937T>G , LRG_269t1:c.1937T>G	NP_078853.2:p.Leu646Arg
NM_024577.4:c.1937T>G MANE Select	NP_078853.2:p.Leu646Arg