Canonical Allele Identifier: CA6160713

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473043G>A , CM000673.2:g.70473043G>A	GRCh38
NC_000011.9:g.70319148G>A , CM000673.1:g.70319148G>A	GRCh37
NC_000011.8:g.69996796G>A	NCBI36
NG_042866.1:g.656754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3609C>T	ENSP00000345193.7:p.Ala1203=
ENST00000412252.6:c.1154C>T	ENSP00000414876.2:n.1154C>T
ENST00000601538.6:c.5376C>T MANE Select	ENSP00000469689.2:p.Ala1792=
ENST00000654939.1:c.2885C>T
ENST00000656230.1:c.4239C>T	ENSP00000499561.1:p.Ala1413=
ENST00000659264.1:c.3666C>T	ENSP00000499270.1:p.Ala1222=
ENST00000338508.8:c.3612C>T	ENSP00000345193.6:p.Ala1204=
ENST00000357171.7:c.*380C>T	ENSP00000349694.4:n.*380C>T
ENST00000409161.5:c.3588C>T	ENSP00000386491.1:p.Ala1196=
ENST00000412252.5:c.1152C>T
ENST00000423696.6:c.4239C>T	ENSP00000394536.2:p.Ala1413=
ENST00000424924.5:c.3213C>T	ENSP00000402944.1:p.Ala1071=
ENST00000449833.6:c.3612C>T	ENSP00000399423.3:p.Ala1204=
ENST00000601538.5:c.5376C>T	ENSP00000469689.2:p.Ala1792=
ENST00000606715.3:n.2128C>T
NM_012309.4:c.5376C>T	NP_036441.2:p.Ala1792=
NM_133266.4:c.3612C>T	NP_573573.2:p.Ala1204=
NR_110766.1:n.1230C>T
XM_005277930.2:c.5376C>T	XP_005277987.1:p.Ala1792=
XM_005277932.2:c.4239C>T	XP_005277989.1:p.Ala1413=
XM_006718478.2:c.5346C>T	XP_006718541.1:p.Ala1782=
XM_011544854.1:c.5388C>T	XP_011543156.1:p.Ala1796=
XM_011544855.1:c.5367C>T	XP_011543157.1:p.Ala1789=
XM_011544856.1:c.5361C>T	XP_011543158.1:p.Ala1787=
XM_011544857.1:c.5340C>T	XP_011543159.1:p.Ala1780=
XM_011544859.1:c.4251C>T	XP_011543161.1:p.Ala1417=
XM_005277932.3:c.4239C>T	XP_005277989.1:p.Ala1413=
XM_017017387.1:c.5376C>T	XP_016872876.1:p.Ala1792=
XM_017017388.1:c.5376C>T	XP_016872877.1:p.Ala1792=
XM_017017389.1:c.5349C>T	XP_016872878.1:p.Ala1783=
XM_017017390.1:c.3666C>T	XP_016872879.1:p.Ala1222=
NM_133266.5:c.3612C>T	NP_573573.2:p.Ala1204=
NR_110766.2:n.1231C>T
NM_001379226.1:c.4239C>T	NP_001366155.1:p.Ala1413=
NM_012309.5:c.5376C>T MANE Select	NP_036441.2:p.Ala1792=