Canonical Allele Identifier: CA6160785

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473394C>T , CM000673.2:g.70473394C>T	GRCh38
NC_000011.9:g.70319499C>T , CM000673.1:g.70319499C>T	GRCh37
NC_000011.8:g.69997147C>T	NCBI36
NG_042866.1:g.656403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3258G>A	ENSP00000345193.7:p.Thr1086=
ENST00000412252.6:c.803G>A	ENSP00000414876.2:n.803G>A
ENST00000601538.6:c.5025G>A MANE Select	ENSP00000469689.2:p.Thr1675=
ENST00000654939.1:c.2534G>A
ENST00000656230.1:c.3888G>A	ENSP00000499561.1:p.Thr1296=
ENST00000659264.1:c.3315G>A	ENSP00000499270.1:p.Thr1105=
ENST00000338508.8:c.3261G>A	ENSP00000345193.6:p.Thr1087=
ENST00000357171.7:c.*29G>A	ENSP00000349694.4:n.*29G>A
ENST00000409161.5:c.3237G>A	ENSP00000386491.1:p.Thr1079=
ENST00000412252.5:c.801G>A
ENST00000423696.6:c.3888G>A	ENSP00000394536.2:p.Thr1296=
ENST00000424924.5:c.2862G>A	ENSP00000402944.1:p.Thr954=
ENST00000449833.6:c.3261G>A	ENSP00000399423.3:p.Thr1087=
ENST00000601538.5:c.5025G>A	ENSP00000469689.2:p.Thr1675=
ENST00000606715.3:n.1777G>A
NM_012309.4:c.5025G>A	NP_036441.2:p.Thr1675=
NM_133266.4:c.3261G>A	NP_573573.2:p.Thr1087=
NR_110766.1:n.879G>A
XM_005277930.2:c.5025G>A	XP_005277987.1:p.Thr1675=
XM_005277932.2:c.3888G>A	XP_005277989.1:p.Thr1296=
XM_006718478.2:c.4995G>A	XP_006718541.1:p.Thr1665=
XM_011544854.1:c.5037G>A	XP_011543156.1:p.Thr1679=
XM_011544855.1:c.5016G>A	XP_011543157.1:p.Thr1672=
XM_011544856.1:c.5010G>A	XP_011543158.1:p.Thr1670=
XM_011544857.1:c.4989G>A	XP_011543159.1:p.Thr1663=
XM_011544859.1:c.3900G>A	XP_011543161.1:p.Thr1300=
XM_005277932.3:c.3888G>A	XP_005277989.1:p.Thr1296=
XM_017017387.1:c.5025G>A	XP_016872876.1:p.Thr1675=
XM_017017388.1:c.5025G>A	XP_016872877.1:p.Thr1675=
XM_017017389.1:c.4998G>A	XP_016872878.1:p.Thr1666=
XM_017017390.1:c.3315G>A	XP_016872879.1:p.Thr1105=
NM_133266.5:c.3261G>A	NP_573573.2:p.Thr1087=
NR_110766.2:n.880G>A
NM_001379226.1:c.3888G>A	NP_001366155.1:p.Thr1296=
NM_012309.5:c.5025G>A MANE Select	NP_036441.2:p.Thr1675=