Canonical Allele Identifier: CA475471154

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319253T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473148T>A , CM000673.2:g.70473148T>A	GRCh38
NC_000011.9:g.70319253T>A , CM000673.1:g.70319253T>A	GRCh37
NC_000011.8:g.69996901T>A	NCBI36
NG_042866.1:g.656649A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3504A>T	ENSP00000345193.7:p.Pro1168=
ENST00000412252.6:c.1049A>T	ENSP00000414876.2:n.1049A>T
ENST00000601538.6:c.5271A>T MANE Select	ENSP00000469689.2:p.Pro1757=
ENST00000654939.1:c.2780A>T
ENST00000656230.1:c.4134A>T	ENSP00000499561.1:p.Pro1378=
ENST00000659264.1:c.3561A>T	ENSP00000499270.1:p.Pro1187=
ENST00000338508.8:c.3507A>T	ENSP00000345193.6:p.Pro1169=
ENST00000357171.7:c.*275A>T	ENSP00000349694.4:n.*275A>T
ENST00000409161.5:c.3483A>T	ENSP00000386491.1:p.Pro1161=
ENST00000412252.5:c.1047A>T
ENST00000423696.6:c.4134A>T	ENSP00000394536.2:p.Pro1378=
ENST00000424924.5:c.3108A>T	ENSP00000402944.1:p.Pro1036=
ENST00000449833.6:c.3507A>T	ENSP00000399423.3:p.Pro1169=
ENST00000601538.5:c.5271A>T	ENSP00000469689.2:p.Pro1757=
ENST00000606715.3:n.2023A>T
NM_012309.4:c.5271A>T	NP_036441.2:p.Pro1757=
NM_133266.4:c.3507A>T	NP_573573.2:p.Pro1169=
NR_110766.1:n.1125A>T
XM_005277930.2:c.5271A>T	XP_005277987.1:p.Pro1757=
XM_005277932.2:c.4134A>T	XP_005277989.1:p.Pro1378=
XM_006718478.2:c.5241A>T	XP_006718541.1:p.Pro1747=
XM_011544854.1:c.5283A>T	XP_011543156.1:p.Pro1761=
XM_011544855.1:c.5262A>T	XP_011543157.1:p.Pro1754=
XM_011544856.1:c.5256A>T	XP_011543158.1:p.Pro1752=
XM_011544857.1:c.5235A>T	XP_011543159.1:p.Pro1745=
XM_011544859.1:c.4146A>T	XP_011543161.1:p.Pro1382=
XM_005277932.3:c.4134A>T	XP_005277989.1:p.Pro1378=
XM_017017387.1:c.5271A>T	XP_016872876.1:p.Pro1757=
XM_017017388.1:c.5271A>T	XP_016872877.1:p.Pro1757=
XM_017017389.1:c.5244A>T	XP_016872878.1:p.Pro1748=
XM_017017390.1:c.3561A>T	XP_016872879.1:p.Pro1187=
NM_133266.5:c.3507A>T	NP_573573.2:p.Pro1169=
NR_110766.2:n.1126A>T
NM_001379226.1:c.4134A>T	NP_001366155.1:p.Pro1378=
NM_012309.5:c.5271A>T MANE Select	NP_036441.2:p.Pro1757=