Canonical Allele Identifier: CA361667757

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148407523A>C (hg19) ; chr5:g.149027960A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027960A>C , CM000667.2:g.149027960A>C	GRCh38
NC_000005.9:g.148407523A>C , CM000667.1:g.148407523A>C	GRCh37
NC_000005.8:g.148387716A>C	NCBI36
NG_007947.2:g.40215T>G , LRG_269:g.40215T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.1668T>G
ENST00000515425.6:c.1772T>G MANE Select	ENSP00000423660.1:p.Leu591Arg
ENST00000675793.1:c.*1056T>G	ENSP00000502039.1:n.*1056T>G
ENST00000676056.1:c.*1282T>G	ENSP00000501827.1:n.*1282T>G
ENST00000323829.9:c.*1160T>G	ENSP00000313025.5:n.*1160T>G
ENST00000504517.5:c.1302T>G	ENSP00000421779.1:n.1302T>G
ENST00000504690.5:c.1772T>G	ENSP00000425627.1:p.Leu591Arg
ENST00000510779.1:c.822T>G
ENST00000511307.5:c.*1552T>G	ENSP00000421420.1:n.*1552T>G
ENST00000512049.5:c.1751T>G	ENSP00000421860.1:p.Leu584Arg
ENST00000513604.5:c.*1160T>G	ENSP00000423111.1:n.*1160T>G
ENST00000515425.5:c.1772T>G	ENSP00000423660.1:p.Leu591Arg
NM_024577.3:c.1772T>G , LRG_269t1:c.1772T>G	NP_078853.2:p.Leu591Arg
NM_024577.4:c.1772T>G MANE Select	NP_078853.2:p.Leu591Arg