Canonical Allele Identifier: CA13387089
Gene: SHANK2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70663672C>T , CM000673.2:g.70663672C>T GRCh38
NC_000011.9:g.70509777C>T , CM000673.1:g.70509777C>T GRCh37
NC_000011.8:g.70187425C>T NCBI36
NG_042866.1:g.466125G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686462.1:n.80-1994G>A
ENST00000601538.6:c.1854-1994G>A MANE Select ENSP00000469689.2:n.1854-1994G>A
ENST00000656230.1:c.717-1994G>A ENSP00000499561.1:n.717-1994G>A
ENST00000659264.1:c.144-1994G>A ENSP00000499270.1:n.144-1994G>A
ENST00000423696.6:c.717-1994G>A ENSP00000394536.2:n.717-1994G>A
ENST00000426687.2:c.83-1994G>A
ENST00000470759.5:n.264-1994G>A
ENST00000601538.5:c.1854-1994G>A ENSP00000469689.2:n.1854-1994G>A
NM_012309.4:c.1854-1994G>A NP_036441.2:n.1854-1994G>A
XM_005277930.2:c.1854-1994G>A XP_005277987.1:n.1854-1994G>A
XM_005277932.2:c.717-1994G>A XP_005277989.1:n.717-1994G>A
XM_006718478.2:c.1854-1994G>A XP_006718541.1:n.1854-1994G>A
XM_011544854.1:c.1854-1994G>A XP_011543156.1:n.1854-1994G>A
XM_011544855.1:c.1854-1994G>A XP_011543157.1:n.1854-1994G>A
XM_011544856.1:c.1854-1994G>A XP_011543158.1:n.1854-1994G>A
XM_011544857.1:c.1854-1994G>A XP_011543159.1:n.1854-1994G>A
XM_011544858.1:c.1854-1994G>A XP_011543160.1:n.1854-1994G>A
XM_011544859.1:c.717-1994G>A XP_011543161.1:n.717-1994G>A
XM_005277932.3:c.717-1994G>A XP_005277989.1:n.717-1994G>A
XM_017017387.1:c.1854-1994G>A XP_016872876.1:n.1854-1994G>A
XM_017017388.1:c.1854-1994G>A XP_016872877.1:n.1854-1994G>A
XM_017017389.1:c.1854-1994G>A XP_016872878.1:n.1854-1994G>A
XM_017017390.1:c.144-1994G>A XP_016872879.1:n.144-1994G>A
NM_001379226.1:c.717-1994G>A NP_001366155.1:n.717-1994G>A
NM_012309.5:c.1854-1994G>A MANE Select NP_036441.2:n.1854-1994G>A
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