Canonical Allele Identifier: CA2578445679
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149009060G>T , CM000667.2:g.149009060G>T GRCh38
NC_000005.9:g.148388623G>T , CM000667.1:g.148388623G>T GRCh37
NC_000005.8:g.148368816G>T NCBI36
NG_007947.2:g.59115C>A , LRG_269:g.59115C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502274.2:c.3224-59C>A
ENST00000515425.6:c.3328-59C>A MANE Select ENSP00000423660.1:n.3328-59C>A
ENST00000675793.1:c.*2612-59C>A ENSP00000502039.1:n.*2612-59C>A
ENST00000323829.9:c.*2716-59C>A ENSP00000313025.5:n.*2716-59C>A
ENST00000504517.5:c.2858-59C>A ENSP00000421779.1:n.2858-59C>A
ENST00000504690.5:c.3328-59C>A ENSP00000425627.1:n.3328-59C>A
ENST00000510779.1:c.2378-59C>A
ENST00000512049.5:c.3307-59C>A ENSP00000421860.1:n.3307-59C>A
ENST00000515425.5:c.3328-59C>A ENSP00000423660.1:n.3328-59C>A
NM_024577.3:c.3328-59C>A , LRG_269t1:c.3328-59C>A NP_078853.2:n.3328-59C>A
NM_024577.4:c.3328-59C>A MANE Select NP_078853.2:n.3328-59C>A