Canonical Allele Identifier: CA361664013

Gene: SH3TC2

Linked Data

• MyVariant Identifiers: chr5:g.148386509T>G (hg19) ; chr5:g.149006946T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149006946T>G , CM000667.2:g.149006946T>G	GRCh38
NC_000005.9:g.148386509T>G , CM000667.1:g.148386509T>G	GRCh37
NC_000005.8:g.148366702T>G	NCBI36
NG_007947.2:g.61229A>C , LRG_269:g.61229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.4463A>C
ENST00000515425.6:c.3610A>C MANE Select	ENSP00000423660.1:p.Lys1204Gln
ENST00000675793.1:c.*4667A>C	ENSP00000502039.1:n.*4667A>C
ENST00000323829.9:c.*2998A>C	ENSP00000313025.5:n.*2998A>C
ENST00000502274.1:c.196A>C	ENSP00000421092.1:p.Lys66Gln
ENST00000504517.5:c.3132A>C	ENSP00000421779.1:n.3132A>C
ENST00000504690.5:c.3610A>C	ENSP00000425627.1:p.Lys1204Gln
ENST00000510350.1:n.166A>C
ENST00000510779.1:c.2660A>C
ENST00000512049.5:c.3589A>C	ENSP00000421860.1:p.Lys1197Gln
ENST00000515229.5:n.272A>C
ENST00000515425.5:c.3610A>C	ENSP00000423660.1:p.Lys1204Gln
NM_024577.3:c.3610A>C , LRG_269t1:c.3610A>C	NP_078853.2:p.Lys1204Gln
NM_024577.4:c.3610A>C MANE Select	NP_078853.2:p.Lys1204Gln