Canonical Allele Identifier: CA1981345983
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71147072A= , CM000673.2:g.71147072A= GRCh38
NC_000011.9:g.70858118A= , CM000673.1:g.70858118A= GRCh37
NC_000011.8:g.70535766A= NCBI36
NG_042866.1:g.82725T=

Transcript Alleles

HGVS Amino-acid change
ENST00000601538.6:c.207+48T= MANE Select ENSP00000469689.2:n.207+48T=
ENST00000601538.5:c.207+48T= ENSP00000469689.2:n.207+48T=
ENST00000608988.5:c.207+48T= ENSP00000476264.2:n.207+48T=
NM_012309.4:c.207+48T= NP_036441.2:n.207+48T=
XM_005277930.2:c.207+48T= XP_005277987.1:n.207+48T=
XM_006718478.2:c.207+48T= XP_006718541.1:n.207+48T=
XM_011544854.1:c.207+48T= XP_011543156.1:n.207+48T=
XM_011544855.1:c.207+48T= XP_011543157.1:n.207+48T=
XM_011544856.1:c.207+48T= XP_011543158.1:n.207+48T=
XM_011544857.1:c.207+48T= XP_011543159.1:n.207+48T=
XM_011544858.1:c.207+48T= XP_011543160.1:n.207+48T=
XM_017017387.1:c.207+48T= XP_016872876.1:n.207+48T=
XM_017017388.1:c.207+48T= XP_016872877.1:n.207+48T=
XM_017017389.1:c.207+48T= XP_016872878.1:n.207+48T=
NM_012309.5:c.207+48T= MANE Select NP_036441.2:n.207+48T=