Canonical Allele Identifier: CA1981067908

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473096T= , CM000673.2:g.70473096T=	GRCh38
NC_000011.9:g.70319201T= , CM000673.1:g.70319201T=	GRCh37
NC_000011.8:g.69996849T=	NCBI36
NG_042866.1:g.656701A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3556A=	ENSP00000345193.7:p.Asn1186=
ENST00000412252.6:c.1101A=	ENSP00000414876.2:n.1101A=
ENST00000601538.6:c.5323A= MANE Select	ENSP00000469689.2:p.Asn1775=
ENST00000654939.1:c.2832A=
ENST00000656230.1:c.4186A=	ENSP00000499561.1:p.Asn1396=
ENST00000659264.1:c.3613A=	ENSP00000499270.1:p.Asn1205=
ENST00000338508.8:c.3559A=	ENSP00000345193.6:p.Asn1187=
ENST00000357171.7:c.*327A=	ENSP00000349694.4:n.*327A=
ENST00000409161.5:c.3535A=	ENSP00000386491.1:p.Asn1179=
ENST00000412252.5:c.1099A=
ENST00000423696.6:c.4186A=	ENSP00000394536.2:p.Asn1396=
ENST00000424924.5:c.3160A=	ENSP00000402944.1:p.Asn1054=
ENST00000449833.6:c.3559A=	ENSP00000399423.3:p.Asn1187=
ENST00000601538.5:c.5323A=	ENSP00000469689.2:p.Asn1775=
ENST00000606715.3:n.2075A=
NM_012309.4:c.5323A=	NP_036441.2:p.Asn1775=
NM_133266.4:c.3559A=	NP_573573.2:p.Asn1187=
NR_110766.1:n.1177A=
XM_005277930.2:c.5323A=	XP_005277987.1:p.Asn1775=
XM_005277932.2:c.4186A=	XP_005277989.1:p.Asn1396=
XM_006718478.2:c.5293A=	XP_006718541.1:p.Asn1765=
XM_011544854.1:c.5335A=	XP_011543156.1:p.Asn1779=
XM_011544855.1:c.5314A=	XP_011543157.1:p.Asn1772=
XM_011544856.1:c.5308A=	XP_011543158.1:p.Asn1770=
XM_011544857.1:c.5287A=	XP_011543159.1:p.Asn1763=
XM_011544859.1:c.4198A=	XP_011543161.1:p.Asn1400=
XM_005277932.3:c.4186A=	XP_005277989.1:p.Asn1396=
XM_017017387.1:c.5323A=	XP_016872876.1:p.Asn1775=
XM_017017388.1:c.5323A=	XP_016872877.1:p.Asn1775=
XM_017017389.1:c.5296A=	XP_016872878.1:p.Asn1766=
XM_017017390.1:c.3613A=	XP_016872879.1:p.Asn1205=
NM_133266.5:c.3559A=	NP_573573.2:p.Asn1187=
NR_110766.2:n.1178A=
NM_001379226.1:c.4186A=	NP_001366155.1:p.Asn1396=
NM_012309.5:c.5323A= MANE Select	NP_036441.2:p.Asn1775=