Canonical Allele Identifier: CA1981067974

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473265G= , CM000673.2:g.70473265G=	GRCh38
NC_000011.9:g.70319370G= , CM000673.1:g.70319370G=	GRCh37
NC_000011.8:g.69997018G=	NCBI36
NG_042866.1:g.656532C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3387C=	ENSP00000345193.7:p.Asn1129=
ENST00000412252.6:c.932C=	ENSP00000414876.2:n.932C=
ENST00000601538.6:c.5154C= MANE Select	ENSP00000469689.2:p.Asn1718=
ENST00000654939.1:c.2663C=
ENST00000656230.1:c.4017C=	ENSP00000499561.1:p.Asn1339=
ENST00000659264.1:c.3444C=	ENSP00000499270.1:p.Asn1148=
ENST00000338508.8:c.3390C=	ENSP00000345193.6:p.Asn1130=
ENST00000357171.7:c.*158C=	ENSP00000349694.4:n.*158C=
ENST00000409161.5:c.3366C=	ENSP00000386491.1:p.Asn1122=
ENST00000412252.5:c.930C=
ENST00000423696.6:c.4017C=	ENSP00000394536.2:p.Asn1339=
ENST00000424924.5:c.2991C=	ENSP00000402944.1:p.Asn997=
ENST00000449833.6:c.3390C=	ENSP00000399423.3:p.Asn1130=
ENST00000601538.5:c.5154C=	ENSP00000469689.2:p.Asn1718=
ENST00000606715.3:n.1906C=
NM_012309.4:c.5154C=	NP_036441.2:p.Asn1718=
NM_133266.4:c.3390C=	NP_573573.2:p.Asn1130=
NR_110766.1:n.1008C=
XM_005277930.2:c.5154C=	XP_005277987.1:p.Asn1718=
XM_005277932.2:c.4017C=	XP_005277989.1:p.Asn1339=
XM_006718478.2:c.5124C=	XP_006718541.1:p.Asn1708=
XM_011544854.1:c.5166C=	XP_011543156.1:p.Asn1722=
XM_011544855.1:c.5145C=	XP_011543157.1:p.Asn1715=
XM_011544856.1:c.5139C=	XP_011543158.1:p.Asn1713=
XM_011544857.1:c.5118C=	XP_011543159.1:p.Asn1706=
XM_011544859.1:c.4029C=	XP_011543161.1:p.Asn1343=
XM_005277932.3:c.4017C=	XP_005277989.1:p.Asn1339=
XM_017017387.1:c.5154C=	XP_016872876.1:p.Asn1718=
XM_017017388.1:c.5154C=	XP_016872877.1:p.Asn1718=
XM_017017389.1:c.5127C=	XP_016872878.1:p.Asn1709=
XM_017017390.1:c.3444C=	XP_016872879.1:p.Asn1148=
NM_133266.5:c.3390C=	NP_573573.2:p.Asn1130=
NR_110766.2:n.1009C=
NM_001379226.1:c.4017C=	NP_001366155.1:p.Asn1339=
NM_012309.5:c.5154C= MANE Select	NP_036441.2:p.Asn1718=