Canonical Allele Identifier: CA223591542

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70472278G>T , CM000673.2:g.70472278G>T	GRCh38
NC_000011.9:g.70318383G>T , CM000673.1:g.70318383G>T	GRCh37
NC_000011.8:g.69996031G>T	NCBI36
NG_042866.1:g.657519C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.*591C>A	ENSP00000345193.7:n.*591C>A
ENST00000601538.6:c.*591C>A MANE Select	ENSP00000469689.2:n.*591C>A
ENST00000654939.1:c.3650C>A
ENST00000656230.1:c.*591C>A	ENSP00000499561.1:n.*591C>A
ENST00000659264.1:c.*591C>A	ENSP00000499270.1:n.*591C>A
ENST00000338508.8:c.*591C>A	ENSP00000345193.6:n.*591C>A
ENST00000409161.5:c.*591C>A	ENSP00000386491.1:n.*591C>A
ENST00000423696.6:c.5004C>A	ENSP00000394536.2:n.5004C>A
ENST00000424924.5:c.3978C>A	ENSP00000402944.1:n.3978C>A
ENST00000449833.6:c.*591C>A	ENSP00000399423.3:n.*591C>A
ENST00000601538.5:c.*591C>A	ENSP00000469689.2:n.*591C>A
ENST00000606715.3:n.2893C>A
NM_012309.4:c.*591C>A	NP_036441.2:n.*591C>A
NM_133266.4:c.*591C>A	NP_573573.2:n.*591C>A
NR_110766.1:n.1995C>A
XM_005277930.2:c.*591C>A	XP_005277987.1:n.*591C>A
XM_005277932.2:c.*591C>A	XP_005277989.1:n.*591C>A
XM_006718478.2:c.*591C>A	XP_006718541.1:n.*591C>A
XM_011544854.1:c.*591C>A	XP_011543156.1:n.*591C>A
XM_011544855.1:c.*591C>A	XP_011543157.1:n.*591C>A
XM_011544856.1:c.*591C>A	XP_011543158.1:n.*591C>A
XM_011544857.1:c.*591C>A	XP_011543159.1:n.*591C>A
XM_011544859.1:c.*591C>A	XP_011543161.1:n.*591C>A
XM_005277932.3:c.*591C>A	XP_005277989.1:n.*591C>A
XM_017017387.1:c.*591C>A	XP_016872876.1:n.*591C>A
XM_017017388.1:c.*591C>A	XP_016872877.1:n.*591C>A
XM_017017389.1:c.*591C>A	XP_016872878.1:n.*591C>A
XM_017017390.1:c.*591C>A	XP_016872879.1:n.*591C>A
NM_133266.5:c.*591C>A	NP_573573.2:n.*591C>A
NR_110766.2:n.1996C>A
NM_001379226.1:c.*591C>A	NP_001366155.1:n.*591C>A
NM_012309.5:c.*591C>A MANE Select	NP_036441.2:n.*591C>A