Canonical Allele Identifier: CA3499588
Community Standard Title: NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)
Gene: SH3TC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149047887T>A , CM000667.2:g.149047887T>A GRCh38
NC_000005.9:g.148427450T>A , CM000667.1:g.148427450T>A GRCh37
NC_000005.8:g.148407643T>A NCBI36
NG_007947.2:g.20288A>T , LRG_269:g.20288A>T

Transcript Alleles

HGVS Amino-acid Change
NM_024577.4:c.254A>T MANE Select NP_078853.2:p.Asp85Val
ENST00000515425.6:c.254A>T MANE Select ENSP00000423660.1:p.Asp85Val
NM_024577.3:c.254A>T , LRG_269t1:c.254A>T NP_078853.2:p.Asp85Val
ENST00000323829.9:c.254A>T ENSP00000313025.5:p.Asp85Val
ENST00000502274.2:c.202A>T
ENST00000504091.1:n.290A>T
ENST00000504690.5:c.254A>T ENSP00000425627.1:p.Asp85Val
ENST00000511307.5:c.254A>T ENSP00000421420.1:p.Asp85Val
ENST00000511949.5:n.324A>T
ENST00000512049.5:c.254A>T ENSP00000421860.1:p.Asp85Val
ENST00000513604.5:c.254A>T ENSP00000423111.1:p.Asp85Val
ENST00000515425.5:c.254A>T ENSP00000423660.1:p.Asp85Val
ENST00000674983.1:c.254A>T ENSP00000502387.1:p.Asp85Val
ENST00000675793.1:c.254A>T ENSP00000502039.1:p.Asp85Val
ENST00000676056.1:c.254A>T ENSP00000501827.1:p.Asp85Val