Canonical Allele Identifier: CA475471068

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473097-T-G
• MyVariant Identifiers: chr11:g.70319202T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473097T>G , CM000673.2:g.70473097T>G	GRCh38
NC_000011.9:g.70319202T>G , CM000673.1:g.70319202T>G	GRCh37
NC_000011.8:g.69996850T>G	NCBI36
NG_042866.1:g.656700A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3555A>C	ENSP00000345193.7:p.Ser1185=
ENST00000412252.6:c.1100A>C	ENSP00000414876.2:n.1100A>C
ENST00000601538.6:c.5322A>C MANE Select	ENSP00000469689.2:p.Ser1774=
ENST00000654939.1:c.2831A>C
ENST00000656230.1:c.4185A>C	ENSP00000499561.1:p.Ser1395=
ENST00000659264.1:c.3612A>C	ENSP00000499270.1:p.Ser1204=
ENST00000338508.8:c.3558A>C	ENSP00000345193.6:p.Ser1186=
ENST00000357171.7:c.*326A>C	ENSP00000349694.4:n.*326A>C
ENST00000409161.5:c.3534A>C	ENSP00000386491.1:p.Ser1178=
ENST00000412252.5:c.1098A>C
ENST00000423696.6:c.4185A>C	ENSP00000394536.2:p.Ser1395=
ENST00000424924.5:c.3159A>C	ENSP00000402944.1:p.Ser1053=
ENST00000449833.6:c.3558A>C	ENSP00000399423.3:p.Ser1186=
ENST00000601538.5:c.5322A>C	ENSP00000469689.2:p.Ser1774=
ENST00000606715.3:n.2074A>C
NM_012309.4:c.5322A>C	NP_036441.2:p.Ser1774=
NM_133266.4:c.3558A>C	NP_573573.2:p.Ser1186=
NR_110766.1:n.1176A>C
XM_005277930.2:c.5322A>C	XP_005277987.1:p.Ser1774=
XM_005277932.2:c.4185A>C	XP_005277989.1:p.Ser1395=
XM_006718478.2:c.5292A>C	XP_006718541.1:p.Ser1764=
XM_011544854.1:c.5334A>C	XP_011543156.1:p.Ser1778=
XM_011544855.1:c.5313A>C	XP_011543157.1:p.Ser1771=
XM_011544856.1:c.5307A>C	XP_011543158.1:p.Ser1769=
XM_011544857.1:c.5286A>C	XP_011543159.1:p.Ser1762=
XM_011544859.1:c.4197A>C	XP_011543161.1:p.Ser1399=
XM_005277932.3:c.4185A>C	XP_005277989.1:p.Ser1395=
XM_017017387.1:c.5322A>C	XP_016872876.1:p.Ser1774=
XM_017017388.1:c.5322A>C	XP_016872877.1:p.Ser1774=
XM_017017389.1:c.5295A>C	XP_016872878.1:p.Ser1765=
XM_017017390.1:c.3612A>C	XP_016872879.1:p.Ser1204=
NM_133266.5:c.3558A>C	NP_573573.2:p.Ser1186=
NR_110766.2:n.1177A>C
NM_001379226.1:c.4185A>C	NP_001366155.1:p.Ser1395=
NM_012309.5:c.5322A>C MANE Select	NP_036441.2:p.Ser1774=