Canonical Allele Identifier: CA475471065

Gene: SHANK2

Linked Data

• dbSNP Id: rs1555149048
• gnomAD v4: 11-70473094-A-G
• MyVariant Identifiers: chr11:g.70319199A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473094A>G , CM000673.2:g.70473094A>G	GRCh38
NC_000011.9:g.70319199A>G , CM000673.1:g.70319199A>G	GRCh37
NC_000011.8:g.69996847A>G	NCBI36
NG_042866.1:g.656703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3558T>C	ENSP00000345193.7:p.Asn1186=
ENST00000412252.6:c.1103T>C	ENSP00000414876.2:n.1103T>C
ENST00000601538.6:c.5325T>C MANE Select	ENSP00000469689.2:p.Asn1775=
ENST00000654939.1:c.2834T>C
ENST00000656230.1:c.4188T>C	ENSP00000499561.1:p.Asn1396=
ENST00000659264.1:c.3615T>C	ENSP00000499270.1:p.Asn1205=
ENST00000338508.8:c.3561T>C	ENSP00000345193.6:p.Asn1187=
ENST00000357171.7:c.*329T>C	ENSP00000349694.4:n.*329T>C
ENST00000409161.5:c.3537T>C	ENSP00000386491.1:p.Asn1179=
ENST00000412252.5:c.1101T>C
ENST00000423696.6:c.4188T>C	ENSP00000394536.2:p.Asn1396=
ENST00000424924.5:c.3162T>C	ENSP00000402944.1:p.Asn1054=
ENST00000449833.6:c.3561T>C	ENSP00000399423.3:p.Asn1187=
ENST00000601538.5:c.5325T>C	ENSP00000469689.2:p.Asn1775=
ENST00000606715.3:n.2077T>C
NM_012309.4:c.5325T>C	NP_036441.2:p.Asn1775=
NM_133266.4:c.3561T>C	NP_573573.2:p.Asn1187=
NR_110766.1:n.1179T>C
XM_005277930.2:c.5325T>C	XP_005277987.1:p.Asn1775=
XM_005277932.2:c.4188T>C	XP_005277989.1:p.Asn1396=
XM_006718478.2:c.5295T>C	XP_006718541.1:p.Asn1765=
XM_011544854.1:c.5337T>C	XP_011543156.1:p.Asn1779=
XM_011544855.1:c.5316T>C	XP_011543157.1:p.Asn1772=
XM_011544856.1:c.5310T>C	XP_011543158.1:p.Asn1770=
XM_011544857.1:c.5289T>C	XP_011543159.1:p.Asn1763=
XM_011544859.1:c.4200T>C	XP_011543161.1:p.Asn1400=
XM_005277932.3:c.4188T>C	XP_005277989.1:p.Asn1396=
XM_017017387.1:c.5325T>C	XP_016872876.1:p.Asn1775=
XM_017017388.1:c.5325T>C	XP_016872877.1:p.Asn1775=
XM_017017389.1:c.5298T>C	XP_016872878.1:p.Asn1766=
XM_017017390.1:c.3615T>C	XP_016872879.1:p.Asn1205=
NM_133266.5:c.3561T>C	NP_573573.2:p.Asn1187=
NR_110766.2:n.1180T>C
NM_001379226.1:c.4188T>C	NP_001366155.1:p.Asn1396=
NM_012309.5:c.5325T>C MANE Select	NP_036441.2:p.Asn1775=