Canonical Allele Identifier: CA381957360

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70661608G>A , CM000673.2:g.70661608G>A	GRCh38
NC_000011.9:g.70507713G>A , CM000673.1:g.70507713G>A	GRCh37
NC_000011.8:g.70185361G>A	NCBI36
NG_042866.1:g.468189C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012309.5:c.1924C>T MANE Select	NP_036441.2:p.Arg642Ter
ENST00000601538.6:c.1924C>T MANE Select	ENSP00000469689.2:p.Arg642Ter
NM_001379226.1:c.787C>T	NP_001366155.1:p.Arg263Ter
NM_012309.4:c.1924C>T	NP_036441.2:p.Arg642Ter
NM_133266.4:c.160C>T	NP_573573.2:p.Arg54Ter
NM_133266.5:c.160C>T	NP_573573.2:p.Arg54Ter
NR_110766.1:n.233C>T
NR_110766.2:n.234C>T
ENST00000338508.8:c.160C>T	ENSP00000345193.6:p.Arg54Ter
ENST00000338508.9:c.157C>T	ENSP00000345193.7:p.Arg53Ter
ENST00000357171.7:c.121C>T	ENSP00000349694.4:p.Arg41Ter
ENST00000409161.5:c.157C>T	ENSP00000386491.1:p.Arg53Ter
ENST00000409530.5:c.160C>T	ENSP00000387324.2:p.Arg54Ter
ENST00000412252.5:c.155C>T
ENST00000412252.6:c.157C>T	ENSP00000414876.2:p.Arg53Ter
ENST00000423696.6:c.787C>T	ENSP00000394536.2:p.Arg263Ter
ENST00000426687.2:c.153C>T
ENST00000449116.6:c.160C>T	ENSP00000394939.2:p.Arg54Ter
ENST00000449833.6:c.160C>T	ENSP00000399423.3:p.Arg54Ter
ENST00000470759.5:n.334C>T
ENST00000601538.5:c.1924C>T	ENSP00000469689.2:p.Arg642Ter
ENST00000656230.1:c.787C>T	ENSP00000499561.1:p.Arg263Ter
ENST00000659264.1:c.214C>T	ENSP00000499270.1:p.Arg72Ter
ENST00000686462.1:n.150C>T
ENST00000690983.1:n.350C>T
XM_005277930.2:c.1924C>T	XP_005277987.1:p.Arg642Ter
XM_005277932.2:c.787C>T	XP_005277989.1:p.Arg263Ter
XM_005277932.3:c.787C>T	XP_005277989.1:p.Arg263Ter
XM_006718478.2:c.1924C>T	XP_006718541.1:p.Arg642Ter
XM_011544854.1:c.1924C>T	XP_011543156.1:p.Arg642Ter
XM_011544855.1:c.1924C>T	XP_011543157.1:p.Arg642Ter
XM_011544856.1:c.1924C>T	XP_011543158.1:p.Arg642Ter
XM_011544857.1:c.1924C>T	XP_011543159.1:p.Arg642Ter
XM_011544858.1:c.1924C>T	XP_011543160.1:p.Arg642Ter
XM_011544859.1:c.787C>T	XP_011543161.1:p.Arg263Ter
XM_017017387.1:c.1924C>T	XP_016872876.1:p.Arg642Ter
XM_017017388.1:c.1924C>T	XP_016872877.1:p.Arg642Ter
XM_017017389.1:c.1924C>T	XP_016872878.1:p.Arg642Ter
XM_017017390.1:c.214C>T	XP_016872879.1:p.Arg72Ter