Canonical Allele Identifier: CA1981067981

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473280C= , CM000673.2:g.70473280C=	GRCh38
NC_000011.9:g.70319385C= , CM000673.1:g.70319385C=	GRCh37
NC_000011.8:g.69997033C=	NCBI36
NG_042866.1:g.656517G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3372G=	ENSP00000345193.7:p.Ser1124=
ENST00000412252.6:c.917G=	ENSP00000414876.2:n.917G=
ENST00000601538.6:c.5139G= MANE Select	ENSP00000469689.2:p.Ser1713=
ENST00000654939.1:c.2648G=
ENST00000656230.1:c.4002G=	ENSP00000499561.1:p.Ser1334=
ENST00000659264.1:c.3429G=	ENSP00000499270.1:p.Ser1143=
ENST00000338508.8:c.3375G=	ENSP00000345193.6:p.Ser1125=
ENST00000357171.7:c.*143G=	ENSP00000349694.4:n.*143G=
ENST00000409161.5:c.3351G=	ENSP00000386491.1:p.Ser1117=
ENST00000412252.5:c.915G=
ENST00000423696.6:c.4002G=	ENSP00000394536.2:p.Ser1334=
ENST00000424924.5:c.2976G=	ENSP00000402944.1:p.Ser992=
ENST00000449833.6:c.3375G=	ENSP00000399423.3:p.Ser1125=
ENST00000601538.5:c.5139G=	ENSP00000469689.2:p.Ser1713=
ENST00000606715.3:n.1891G=
NM_012309.4:c.5139G=	NP_036441.2:p.Ser1713=
NM_133266.4:c.3375G=	NP_573573.2:p.Ser1125=
NR_110766.1:n.993G=
XM_005277930.2:c.5139G=	XP_005277987.1:p.Ser1713=
XM_005277932.2:c.4002G=	XP_005277989.1:p.Ser1334=
XM_006718478.2:c.5109G=	XP_006718541.1:p.Ser1703=
XM_011544854.1:c.5151G=	XP_011543156.1:p.Ser1717=
XM_011544855.1:c.5130G=	XP_011543157.1:p.Ser1710=
XM_011544856.1:c.5124G=	XP_011543158.1:p.Ser1708=
XM_011544857.1:c.5103G=	XP_011543159.1:p.Ser1701=
XM_011544859.1:c.4014G=	XP_011543161.1:p.Ser1338=
XM_005277932.3:c.4002G=	XP_005277989.1:p.Ser1334=
XM_017017387.1:c.5139G=	XP_016872876.1:p.Ser1713=
XM_017017388.1:c.5139G=	XP_016872877.1:p.Ser1713=
XM_017017389.1:c.5112G=	XP_016872878.1:p.Ser1704=
XM_017017390.1:c.3429G=	XP_016872879.1:p.Ser1143=
NM_133266.5:c.3375G=	NP_573573.2:p.Ser1125=
NR_110766.2:n.994G=
NM_001379226.1:c.4002G=	NP_001366155.1:p.Ser1334=
NM_012309.5:c.5139G= MANE Select	NP_036441.2:p.Ser1713=