Canonical Allele Identifier: CA475471189

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319280A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473175A>T , CM000673.2:g.70473175A>T	GRCh38
NC_000011.9:g.70319280A>T , CM000673.1:g.70319280A>T	GRCh37
NC_000011.8:g.69996928A>T	NCBI36
NG_042866.1:g.656622T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3477T>A	ENSP00000345193.7:p.Pro1159=
ENST00000412252.6:c.1022T>A	ENSP00000414876.2:n.1022T>A
ENST00000601538.6:c.5244T>A MANE Select	ENSP00000469689.2:p.Pro1748=
ENST00000654939.1:c.2753T>A
ENST00000656230.1:c.4107T>A	ENSP00000499561.1:p.Pro1369=
ENST00000659264.1:c.3534T>A	ENSP00000499270.1:p.Pro1178=
ENST00000338508.8:c.3480T>A	ENSP00000345193.6:p.Pro1160=
ENST00000357171.7:c.*248T>A	ENSP00000349694.4:n.*248T>A
ENST00000409161.5:c.3456T>A	ENSP00000386491.1:p.Pro1152=
ENST00000412252.5:c.1020T>A
ENST00000423696.6:c.4107T>A	ENSP00000394536.2:p.Pro1369=
ENST00000424924.5:c.3081T>A	ENSP00000402944.1:p.Pro1027=
ENST00000449833.6:c.3480T>A	ENSP00000399423.3:p.Pro1160=
ENST00000601538.5:c.5244T>A	ENSP00000469689.2:p.Pro1748=
ENST00000606715.3:n.1996T>A
NM_012309.4:c.5244T>A	NP_036441.2:p.Pro1748=
NM_133266.4:c.3480T>A	NP_573573.2:p.Pro1160=
NR_110766.1:n.1098T>A
XM_005277930.2:c.5244T>A	XP_005277987.1:p.Pro1748=
XM_005277932.2:c.4107T>A	XP_005277989.1:p.Pro1369=
XM_006718478.2:c.5214T>A	XP_006718541.1:p.Pro1738=
XM_011544854.1:c.5256T>A	XP_011543156.1:p.Pro1752=
XM_011544855.1:c.5235T>A	XP_011543157.1:p.Pro1745=
XM_011544856.1:c.5229T>A	XP_011543158.1:p.Pro1743=
XM_011544857.1:c.5208T>A	XP_011543159.1:p.Pro1736=
XM_011544859.1:c.4119T>A	XP_011543161.1:p.Pro1373=
XM_005277932.3:c.4107T>A	XP_005277989.1:p.Pro1369=
XM_017017387.1:c.5244T>A	XP_016872876.1:p.Pro1748=
XM_017017388.1:c.5244T>A	XP_016872877.1:p.Pro1748=
XM_017017389.1:c.5217T>A	XP_016872878.1:p.Pro1739=
XM_017017390.1:c.3534T>A	XP_016872879.1:p.Pro1178=
NM_133266.5:c.3480T>A	NP_573573.2:p.Pro1160=
NR_110766.2:n.1099T>A
NM_001379226.1:c.4107T>A	NP_001366155.1:p.Pro1369=
NM_012309.5:c.5244T>A MANE Select	NP_036441.2:p.Pro1748=