Canonical Allele Identifier: CA6160959

Gene: SHANK2

Linked Data

• dbSNP Id: rs782813167
• ExAC: 11:70332213 A / C
• gnomAD v2: 11-70332213-A-C
• MyVariant Identifiers: chr11:g.70332213A>C (hg19) ; chr11:g.70486108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486108A>C , CM000673.2:g.70486108A>C	GRCh38
NC_000011.9:g.70332213A>C , CM000673.1:g.70332213A>C	GRCh37
NC_000011.8:g.70009861A>C	NCBI36
NG_042866.1:g.643689T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338508.9:c.2418T>G	ENSP00000345193.7:p.Pro806=
ENST00000412252.6:c.757+4195T>G	ENSP00000414876.2:n.757+4195T>G
ENST00000601538.6:c.4185T>G MANE Select	ENSP00000469689.2:p.Pro1395=
ENST00000654939.1:c.1613T>G
ENST00000656230.1:c.3048T>G	ENSP00000499561.1:p.Pro1016=
ENST00000659264.1:c.2475T>G	ENSP00000499270.1:p.Pro825=
ENST00000338508.8:c.2421T>G	ENSP00000345193.6:p.Pro807=
ENST00000357171.7:c.718+4195T>G	ENSP00000349694.4:n.718+4195T>G
ENST00000409161.5:c.2397T>G	ENSP00000386491.1:p.Pro799=
ENST00000412252.5:c.755+4195T>G
ENST00000423696.6:c.3048T>G	ENSP00000394536.2:p.Pro1016=
ENST00000424924.5:c.2022T>G	ENSP00000402944.1:p.Pro674=
ENST00000449833.6:c.2421T>G	ENSP00000399423.3:p.Pro807=
ENST00000601538.5:c.4185T>G	ENSP00000469689.2:p.Pro1395=
NM_012309.4:c.4185T>G	NP_036441.2:p.Pro1395=
NM_133266.4:c.2421T>G	NP_573573.2:p.Pro807=
NR_110766.1:n.833+4195T>G
XM_005277930.2:c.4185T>G	XP_005277987.1:p.Pro1395=
XM_005277932.2:c.3048T>G	XP_005277989.1:p.Pro1016=
XM_006718478.2:c.4155T>G	XP_006718541.1:p.Pro1385=
XM_011544854.1:c.4197T>G	XP_011543156.1:p.Pro1399=
XM_011544855.1:c.4176T>G	XP_011543157.1:p.Pro1392=
XM_011544856.1:c.4170T>G	XP_011543158.1:p.Pro1390=
XM_011544857.1:c.4149T>G	XP_011543159.1:p.Pro1383=
XM_011544858.1:c.4197T>G	XP_011543160.1:p.Pro1399=
XM_011544859.1:c.3060T>G	XP_011543161.1:p.Pro1020=
XM_005277932.3:c.3048T>G	XP_005277989.1:p.Pro1016=
XM_017017387.1:c.4185T>G	XP_016872876.1:p.Pro1395=
XM_017017388.1:c.4185T>G	XP_016872877.1:p.Pro1395=
XM_017017389.1:c.4158T>G	XP_016872878.1:p.Pro1386=
XM_017017390.1:c.2475T>G	XP_016872879.1:p.Pro825=
NM_133266.5:c.2421T>G	NP_573573.2:p.Pro807=
NR_110766.2:n.834+4195T>G
NM_001379226.1:c.3048T>G	NP_001366155.1:p.Pro1016=
NM_012309.5:c.4185T>G MANE Select	NP_036441.2:p.Pro1395=