Canonical Allele Identifier: CA6160995

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486227C>T , CM000673.2:g.70486227C>T	GRCh38
NC_000011.9:g.70332332C>T , CM000673.1:g.70332332C>T	GRCh37
NC_000011.8:g.70009980C>T	NCBI36
NG_042866.1:g.643570G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2299G>A	ENSP00000345193.7:p.Glu767Lys
ENST00000412252.6:c.757+4076G>A	ENSP00000414876.2:n.757+4076G>A
ENST00000601538.6:c.4066G>A MANE Select	ENSP00000469689.2:p.Glu1356Lys
ENST00000654939.1:c.1494G>A
ENST00000656230.1:c.2929G>A	ENSP00000499561.1:p.Glu977Lys
ENST00000659264.1:c.2356G>A	ENSP00000499270.1:p.Glu786Lys
ENST00000338508.8:c.2302G>A	ENSP00000345193.6:p.Glu768Lys
ENST00000357171.7:c.718+4076G>A	ENSP00000349694.4:n.718+4076G>A
ENST00000409161.5:c.2278G>A	ENSP00000386491.1:p.Glu760Lys
ENST00000412252.5:c.755+4076G>A
ENST00000423696.6:c.2929G>A	ENSP00000394536.2:p.Glu977Lys
ENST00000424924.5:c.1903G>A	ENSP00000402944.1:p.Glu635Lys
ENST00000449833.6:c.2302G>A	ENSP00000399423.3:p.Glu768Lys
ENST00000601538.5:c.4066G>A	ENSP00000469689.2:p.Glu1356Lys
NM_012309.4:c.4066G>A	NP_036441.2:p.Glu1356Lys
NM_133266.4:c.2302G>A	NP_573573.2:p.Glu768Lys
NR_110766.1:n.833+4076G>A
XM_005277930.2:c.4066G>A	XP_005277987.1:p.Glu1356Lys
XM_005277932.2:c.2929G>A	XP_005277989.1:p.Glu977Lys
XM_006718478.2:c.4036G>A	XP_006718541.1:p.Glu1346Lys
XM_011544854.1:c.4078G>A	XP_011543156.1:p.Glu1360Lys
XM_011544855.1:c.4057G>A	XP_011543157.1:p.Glu1353Lys
XM_011544856.1:c.4051G>A	XP_011543158.1:p.Glu1351Lys
XM_011544857.1:c.4030G>A	XP_011543159.1:p.Glu1344Lys
XM_011544858.1:c.4078G>A	XP_011543160.1:p.Glu1360Lys
XM_011544859.1:c.2941G>A	XP_011543161.1:p.Glu981Lys
XM_005277932.3:c.2929G>A	XP_005277989.1:p.Glu977Lys
XM_017017387.1:c.4066G>A	XP_016872876.1:p.Glu1356Lys
XM_017017388.1:c.4066G>A	XP_016872877.1:p.Glu1356Lys
XM_017017389.1:c.4039G>A	XP_016872878.1:p.Glu1347Lys
XM_017017390.1:c.2356G>A	XP_016872879.1:p.Glu786Lys
NM_133266.5:c.2302G>A	NP_573573.2:p.Glu768Lys
NR_110766.2:n.834+4076G>A
NM_001379226.1:c.2929G>A	NP_001366155.1:p.Glu977Lys
NM_012309.5:c.4066G>A MANE Select	NP_036441.2:p.Glu1356Lys