Canonical Allele Identifier: CA6160955

Gene: SHANK2

Linked Data

• dbSNP Id: rs781994353
• ExAC: 11:70332183 A / G
• gnomAD v2: 11-70332183-A-G
• gnomAD v3: 11-70486078-A-G
• gnomAD v4: 11-70486078-A-G
• MyVariant Identifiers: chr11:g.70332183A>G (hg19) ; chr11:g.70486078A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486078A>G , CM000673.2:g.70486078A>G	GRCh38
NC_000011.9:g.70332183A>G , CM000673.1:g.70332183A>G	GRCh37
NC_000011.8:g.70009831A>G	NCBI36
NG_042866.1:g.643719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2448T>C	ENSP00000345193.7:p.Phe816=
ENST00000412252.6:c.757+4225T>C	ENSP00000414876.2:n.757+4225T>C
ENST00000601538.6:c.4215T>C MANE Select	ENSP00000469689.2:p.Phe1405=
ENST00000654939.1:c.1643T>C
ENST00000656230.1:c.3078T>C	ENSP00000499561.1:p.Phe1026=
ENST00000659264.1:c.2505T>C	ENSP00000499270.1:p.Phe835=
ENST00000338508.8:c.2451T>C	ENSP00000345193.6:p.Phe817=
ENST00000357171.7:c.718+4225T>C	ENSP00000349694.4:n.718+4225T>C
ENST00000409161.5:c.2427T>C	ENSP00000386491.1:p.Phe809=
ENST00000412252.5:c.755+4225T>C
ENST00000423696.6:c.3078T>C	ENSP00000394536.2:p.Phe1026=
ENST00000424924.5:c.2052T>C	ENSP00000402944.1:p.Phe684=
ENST00000449833.6:c.2451T>C	ENSP00000399423.3:p.Phe817=
ENST00000601538.5:c.4215T>C	ENSP00000469689.2:p.Phe1405=
NM_012309.4:c.4215T>C	NP_036441.2:p.Phe1405=
NM_133266.4:c.2451T>C	NP_573573.2:p.Phe817=
NR_110766.1:n.833+4225T>C
XM_005277930.2:c.4215T>C	XP_005277987.1:p.Phe1405=
XM_005277932.2:c.3078T>C	XP_005277989.1:p.Phe1026=
XM_006718478.2:c.4185T>C	XP_006718541.1:p.Phe1395=
XM_011544854.1:c.4227T>C	XP_011543156.1:p.Phe1409=
XM_011544855.1:c.4206T>C	XP_011543157.1:p.Phe1402=
XM_011544856.1:c.4200T>C	XP_011543158.1:p.Phe1400=
XM_011544857.1:c.4179T>C	XP_011543159.1:p.Phe1393=
XM_011544858.1:c.4227T>C	XP_011543160.1:p.Phe1409=
XM_011544859.1:c.3090T>C	XP_011543161.1:p.Phe1030=
XM_005277932.3:c.3078T>C	XP_005277989.1:p.Phe1026=
XM_017017387.1:c.4215T>C	XP_016872876.1:p.Phe1405=
XM_017017388.1:c.4215T>C	XP_016872877.1:p.Phe1405=
XM_017017389.1:c.4188T>C	XP_016872878.1:p.Phe1396=
XM_017017390.1:c.2505T>C	XP_016872879.1:p.Phe835=
NM_133266.5:c.2451T>C	NP_573573.2:p.Phe817=
NR_110766.2:n.834+4225T>C
NM_001379226.1:c.3078T>C	NP_001366155.1:p.Phe1026=
NM_012309.5:c.4215T>C MANE Select	NP_036441.2:p.Phe1405=