Canonical Allele Identifier: CA361667413
Gene: SH3TC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149027792C>G , CM000667.2:g.149027792C>G GRCh38
NC_000005.9:g.148407355C>G , CM000667.1:g.148407355C>G GRCh37
NC_000005.8:g.148387548C>G NCBI36
NG_007947.2:g.40383G>C , LRG_269:g.40383G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.1836G>C
ENST00000515425.6:c.1940G>C MANE Select ENSP00000423660.1:p.Gly647Ala
ENST00000675793.1:c.*1224G>C ENSP00000502039.1:n.*1224G>C
ENST00000676056.1:c.*1450G>C ENSP00000501827.1:n.*1450G>C
ENST00000323829.9:c.*1328G>C ENSP00000313025.5:n.*1328G>C
ENST00000504517.5:c.1470G>C ENSP00000421779.1:n.1470G>C
ENST00000504690.5:c.1940G>C ENSP00000425627.1:p.Gly647Ala
ENST00000510779.1:c.990G>C
ENST00000511307.5:c.*1720G>C ENSP00000421420.1:n.*1720G>C
ENST00000512049.5:c.1919G>C ENSP00000421860.1:p.Gly640Ala
ENST00000513604.5:c.*1328G>C ENSP00000423111.1:n.*1328G>C
ENST00000515425.5:c.1940G>C ENSP00000423660.1:p.Gly647Ala
NM_024577.3:c.1940G>C , LRG_269t1:c.1940G>C NP_078853.2:p.Gly647Ala
NM_024577.4:c.1940G>C MANE Select NP_078853.2:p.Gly647Ala