Canonical Allele Identifier: CA475471093

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473112-C-G
• MyVariant Identifiers: chr11:g.70319217C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473112C>G , CM000673.2:g.70473112C>G	GRCh38
NC_000011.9:g.70319217C>G , CM000673.1:g.70319217C>G	GRCh37
NC_000011.8:g.69996865C>G	NCBI36
NG_042866.1:g.656685G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3540G>C	ENSP00000345193.7:p.Leu1180=
ENST00000412252.6:c.1085G>C	ENSP00000414876.2:n.1085G>C
ENST00000601538.6:c.5307G>C MANE Select	ENSP00000469689.2:p.Leu1769=
ENST00000654939.1:c.2816G>C
ENST00000656230.1:c.4170G>C	ENSP00000499561.1:p.Leu1390=
ENST00000659264.1:c.3597G>C	ENSP00000499270.1:p.Leu1199=
ENST00000338508.8:c.3543G>C	ENSP00000345193.6:p.Leu1181=
ENST00000357171.7:c.*311G>C	ENSP00000349694.4:n.*311G>C
ENST00000409161.5:c.3519G>C	ENSP00000386491.1:p.Leu1173=
ENST00000412252.5:c.1083G>C
ENST00000423696.6:c.4170G>C	ENSP00000394536.2:p.Leu1390=
ENST00000424924.5:c.3144G>C	ENSP00000402944.1:p.Leu1048=
ENST00000449833.6:c.3543G>C	ENSP00000399423.3:p.Leu1181=
ENST00000601538.5:c.5307G>C	ENSP00000469689.2:p.Leu1769=
ENST00000606715.3:n.2059G>C
NM_012309.4:c.5307G>C	NP_036441.2:p.Leu1769=
NM_133266.4:c.3543G>C	NP_573573.2:p.Leu1181=
NR_110766.1:n.1161G>C
XM_005277930.2:c.5307G>C	XP_005277987.1:p.Leu1769=
XM_005277932.2:c.4170G>C	XP_005277989.1:p.Leu1390=
XM_006718478.2:c.5277G>C	XP_006718541.1:p.Leu1759=
XM_011544854.1:c.5319G>C	XP_011543156.1:p.Leu1773=
XM_011544855.1:c.5298G>C	XP_011543157.1:p.Leu1766=
XM_011544856.1:c.5292G>C	XP_011543158.1:p.Leu1764=
XM_011544857.1:c.5271G>C	XP_011543159.1:p.Leu1757=
XM_011544859.1:c.4182G>C	XP_011543161.1:p.Leu1394=
XM_005277932.3:c.4170G>C	XP_005277989.1:p.Leu1390=
XM_017017387.1:c.5307G>C	XP_016872876.1:p.Leu1769=
XM_017017388.1:c.5307G>C	XP_016872877.1:p.Leu1769=
XM_017017389.1:c.5280G>C	XP_016872878.1:p.Leu1760=
XM_017017390.1:c.3597G>C	XP_016872879.1:p.Leu1199=
NM_133266.5:c.3543G>C	NP_573573.2:p.Leu1181=
NR_110766.2:n.1162G>C
NM_001379226.1:c.4170G>C	NP_001366155.1:p.Leu1390=
NM_012309.5:c.5307G>C MANE Select	NP_036441.2:p.Leu1769=