Canonical Allele Identifier: CA361664688
Gene: SH3TC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149008965C>G , CM000667.2:g.149008965C>G GRCh38
NC_000005.9:g.148388528C>G , CM000667.1:g.148388528C>G GRCh37
NC_000005.8:g.148368721C>G NCBI36
NG_007947.2:g.59210G>C , LRG_269:g.59210G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3260G>C
ENST00000515425.6:c.3364G>C MANE Select ENSP00000423660.1:p.Val1122Leu
ENST00000675793.1:c.*2648G>C ENSP00000502039.1:n.*2648G>C
ENST00000323829.9:c.*2752G>C ENSP00000313025.5:n.*2752G>C
ENST00000504517.5:c.2894G>C ENSP00000421779.1:n.2894G>C
ENST00000504690.5:c.3364G>C ENSP00000425627.1:p.Val1122Leu
ENST00000510779.1:c.2414G>C
ENST00000512049.5:c.3343G>C ENSP00000421860.1:p.Val1115Leu
ENST00000515229.5:n.26G>C
ENST00000515425.5:c.3364G>C ENSP00000423660.1:p.Val1122Leu
NM_024577.3:c.3364G>C , LRG_269t1:c.3364G>C NP_078853.2:p.Val1122Leu
NM_024577.4:c.3364G>C MANE Select NP_078853.2:p.Val1122Leu