Canonical Allele Identifier: CA361664035

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148386520A>G (hg19) ; chr5:g.149006957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006957A>G , CM000667.2:g.149006957A>G	GRCh38
NC_000005.9:g.148386520A>G , CM000667.1:g.148386520A>G	GRCh37
NC_000005.8:g.148366713A>G	NCBI36
NG_007947.2:g.61218T>C , LRG_269:g.61218T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.4452T>C
ENST00000515425.6:c.3599T>C MANE Select	ENSP00000423660.1:p.Leu1200Pro
ENST00000675793.1:c.*4656T>C	ENSP00000502039.1:n.*4656T>C
ENST00000323829.9:c.*2987T>C	ENSP00000313025.5:n.*2987T>C
ENST00000502274.1:c.185T>C	ENSP00000421092.1:p.Leu62Pro
ENST00000504517.5:c.3121T>C	ENSP00000421779.1:n.3121T>C
ENST00000504690.5:c.3599T>C	ENSP00000425627.1:p.Leu1200Pro
ENST00000510350.1:n.155T>C
ENST00000510779.1:c.2649T>C
ENST00000512049.5:c.3578T>C	ENSP00000421860.1:p.Leu1193Pro
ENST00000515229.5:n.261T>C
ENST00000515425.5:c.3599T>C	ENSP00000423660.1:p.Leu1200Pro
NM_024577.3:c.3599T>C , LRG_269t1:c.3599T>C	NP_078853.2:p.Leu1200Pro
NM_024577.4:c.3599T>C MANE Select	NP_078853.2:p.Leu1200Pro