Canonical Allele Identifier: CA475471052

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319193A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473088A>C , CM000673.2:g.70473088A>C	GRCh38
NC_000011.9:g.70319193A>C , CM000673.1:g.70319193A>C	GRCh37
NC_000011.8:g.69996841A>C	NCBI36
NG_042866.1:g.656709T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3564T>G	ENSP00000345193.7:p.Pro1188=
ENST00000412252.6:c.1109T>G	ENSP00000414876.2:n.1109T>G
ENST00000601538.6:c.5331T>G MANE Select	ENSP00000469689.2:p.Pro1777=
ENST00000654939.1:c.2840T>G
ENST00000656230.1:c.4194T>G	ENSP00000499561.1:p.Pro1398=
ENST00000659264.1:c.3621T>G	ENSP00000499270.1:p.Pro1207=
ENST00000338508.8:c.3567T>G	ENSP00000345193.6:p.Pro1189=
ENST00000357171.7:c.*335T>G	ENSP00000349694.4:n.*335T>G
ENST00000409161.5:c.3543T>G	ENSP00000386491.1:p.Pro1181=
ENST00000412252.5:c.1107T>G
ENST00000423696.6:c.4194T>G	ENSP00000394536.2:p.Pro1398=
ENST00000424924.5:c.3168T>G	ENSP00000402944.1:p.Pro1056=
ENST00000449833.6:c.3567T>G	ENSP00000399423.3:p.Pro1189=
ENST00000601538.5:c.5331T>G	ENSP00000469689.2:p.Pro1777=
ENST00000606715.3:n.2083T>G
NM_012309.4:c.5331T>G	NP_036441.2:p.Pro1777=
NM_133266.4:c.3567T>G	NP_573573.2:p.Pro1189=
NR_110766.1:n.1185T>G
XM_005277930.2:c.5331T>G	XP_005277987.1:p.Pro1777=
XM_005277932.2:c.4194T>G	XP_005277989.1:p.Pro1398=
XM_006718478.2:c.5301T>G	XP_006718541.1:p.Pro1767=
XM_011544854.1:c.5343T>G	XP_011543156.1:p.Pro1781=
XM_011544855.1:c.5322T>G	XP_011543157.1:p.Pro1774=
XM_011544856.1:c.5316T>G	XP_011543158.1:p.Pro1772=
XM_011544857.1:c.5295T>G	XP_011543159.1:p.Pro1765=
XM_011544859.1:c.4206T>G	XP_011543161.1:p.Pro1402=
XM_005277932.3:c.4194T>G	XP_005277989.1:p.Pro1398=
XM_017017387.1:c.5331T>G	XP_016872876.1:p.Pro1777=
XM_017017388.1:c.5331T>G	XP_016872877.1:p.Pro1777=
XM_017017389.1:c.5304T>G	XP_016872878.1:p.Pro1768=
XM_017017390.1:c.3621T>G	XP_016872879.1:p.Pro1207=
NM_133266.5:c.3567T>G	NP_573573.2:p.Pro1189=
NR_110766.2:n.1186T>G
NM_001379226.1:c.4194T>G	NP_001366155.1:p.Pro1398=
NM_012309.5:c.5331T>G MANE Select	NP_036441.2:p.Pro1777=