Canonical Allele Identifier: CA1981067928

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473150G= , CM000673.2:g.70473150G=	GRCh38
NC_000011.9:g.70319255G= , CM000673.1:g.70319255G=	GRCh37
NC_000011.8:g.69996903G=	NCBI36
NG_042866.1:g.656647C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3502C=	ENSP00000345193.7:p.Pro1168=
ENST00000412252.6:c.1047C=	ENSP00000414876.2:n.1047C=
ENST00000601538.6:c.5269C= MANE Select	ENSP00000469689.2:p.Pro1757=
ENST00000654939.1:c.2778C=
ENST00000656230.1:c.4132C=	ENSP00000499561.1:p.Pro1378=
ENST00000659264.1:c.3559C=	ENSP00000499270.1:p.Pro1187=
ENST00000338508.8:c.3505C=	ENSP00000345193.6:p.Pro1169=
ENST00000357171.7:c.*273C=	ENSP00000349694.4:n.*273C=
ENST00000409161.5:c.3481C=	ENSP00000386491.1:p.Pro1161=
ENST00000412252.5:c.1045C=
ENST00000423696.6:c.4132C=	ENSP00000394536.2:p.Pro1378=
ENST00000424924.5:c.3106C=	ENSP00000402944.1:p.Pro1036=
ENST00000449833.6:c.3505C=	ENSP00000399423.3:p.Pro1169=
ENST00000601538.5:c.5269C=	ENSP00000469689.2:p.Pro1757=
ENST00000606715.3:n.2021C=
NM_012309.4:c.5269C=	NP_036441.2:p.Pro1757=
NM_133266.4:c.3505C=	NP_573573.2:p.Pro1169=
NR_110766.1:n.1123C=
XM_005277930.2:c.5269C=	XP_005277987.1:p.Pro1757=
XM_005277932.2:c.4132C=	XP_005277989.1:p.Pro1378=
XM_006718478.2:c.5239C=	XP_006718541.1:p.Pro1747=
XM_011544854.1:c.5281C=	XP_011543156.1:p.Pro1761=
XM_011544855.1:c.5260C=	XP_011543157.1:p.Pro1754=
XM_011544856.1:c.5254C=	XP_011543158.1:p.Pro1752=
XM_011544857.1:c.5233C=	XP_011543159.1:p.Pro1745=
XM_011544859.1:c.4144C=	XP_011543161.1:p.Pro1382=
XM_005277932.3:c.4132C=	XP_005277989.1:p.Pro1378=
XM_017017387.1:c.5269C=	XP_016872876.1:p.Pro1757=
XM_017017388.1:c.5269C=	XP_016872877.1:p.Pro1757=
XM_017017389.1:c.5242C=	XP_016872878.1:p.Pro1748=
XM_017017390.1:c.3559C=	XP_016872879.1:p.Pro1187=
NM_133266.5:c.3505C=	NP_573573.2:p.Pro1169=
NR_110766.2:n.1124C=
NM_001379226.1:c.4132C=	NP_001366155.1:p.Pro1378=
NM_012309.5:c.5269C= MANE Select	NP_036441.2:p.Pro1757=