Canonical Allele Identifier: CA1981067969

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473250G= , CM000673.2:g.70473250G=	GRCh38
NC_000011.9:g.70319355G= , CM000673.1:g.70319355G=	GRCh37
NC_000011.8:g.69997003G=	NCBI36
NG_042866.1:g.656547C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3402C=	ENSP00000345193.7:p.Pro1134=
ENST00000412252.6:c.947C=	ENSP00000414876.2:n.947C=
ENST00000601538.6:c.5169C= MANE Select	ENSP00000469689.2:p.Pro1723=
ENST00000654939.1:c.2678C=
ENST00000656230.1:c.4032C=	ENSP00000499561.1:p.Pro1344=
ENST00000659264.1:c.3459C=	ENSP00000499270.1:p.Pro1153=
ENST00000338508.8:c.3405C=	ENSP00000345193.6:p.Pro1135=
ENST00000357171.7:c.*173C=	ENSP00000349694.4:n.*173C=
ENST00000409161.5:c.3381C=	ENSP00000386491.1:p.Pro1127=
ENST00000412252.5:c.945C=
ENST00000423696.6:c.4032C=	ENSP00000394536.2:p.Pro1344=
ENST00000424924.5:c.3006C=	ENSP00000402944.1:p.Pro1002=
ENST00000449833.6:c.3405C=	ENSP00000399423.3:p.Pro1135=
ENST00000601538.5:c.5169C=	ENSP00000469689.2:p.Pro1723=
ENST00000606715.3:n.1921C=
NM_012309.4:c.5169C=	NP_036441.2:p.Pro1723=
NM_133266.4:c.3405C=	NP_573573.2:p.Pro1135=
NR_110766.1:n.1023C=
XM_005277930.2:c.5169C=	XP_005277987.1:p.Pro1723=
XM_005277932.2:c.4032C=	XP_005277989.1:p.Pro1344=
XM_006718478.2:c.5139C=	XP_006718541.1:p.Pro1713=
XM_011544854.1:c.5181C=	XP_011543156.1:p.Pro1727=
XM_011544855.1:c.5160C=	XP_011543157.1:p.Pro1720=
XM_011544856.1:c.5154C=	XP_011543158.1:p.Pro1718=
XM_011544857.1:c.5133C=	XP_011543159.1:p.Pro1711=
XM_011544859.1:c.4044C=	XP_011543161.1:p.Pro1348=
XM_005277932.3:c.4032C=	XP_005277989.1:p.Pro1344=
XM_017017387.1:c.5169C=	XP_016872876.1:p.Pro1723=
XM_017017388.1:c.5169C=	XP_016872877.1:p.Pro1723=
XM_017017389.1:c.5142C=	XP_016872878.1:p.Pro1714=
XM_017017390.1:c.3459C=	XP_016872879.1:p.Pro1153=
NM_133266.5:c.3405C=	NP_573573.2:p.Pro1135=
NR_110766.2:n.1024C=
NM_001379226.1:c.4032C=	NP_001366155.1:p.Pro1344=
NM_012309.5:c.5169C= MANE Select	NP_036441.2:p.Pro1723=