Canonical Allele Identifier: CA475471207
Gene: SHANK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.70319295A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473190A>T , CM000673.2:g.70473190A>T GRCh38
NC_000011.9:g.70319295A>T , CM000673.1:g.70319295A>T GRCh37
NC_000011.8:g.69996943A>T NCBI36
NG_042866.1:g.656607T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3462T>A ENSP00000345193.7:p.Leu1154=
ENST00000412252.6:c.1007T>A ENSP00000414876.2:n.1007T>A
ENST00000601538.6:c.5229T>A MANE Select ENSP00000469689.2:p.Leu1743=
ENST00000654939.1:c.2738T>A
ENST00000656230.1:c.4092T>A ENSP00000499561.1:p.Leu1364=
ENST00000659264.1:c.3519T>A ENSP00000499270.1:p.Leu1173=
ENST00000338508.8:c.3465T>A ENSP00000345193.6:p.Leu1155=
ENST00000357171.7:c.*233T>A ENSP00000349694.4:n.*233T>A
ENST00000409161.5:c.3441T>A ENSP00000386491.1:p.Leu1147=
ENST00000412252.5:c.1005T>A
ENST00000423696.6:c.4092T>A ENSP00000394536.2:p.Leu1364=
ENST00000424924.5:c.3066T>A ENSP00000402944.1:p.Leu1022=
ENST00000449833.6:c.3465T>A ENSP00000399423.3:p.Leu1155=
ENST00000601538.5:c.5229T>A ENSP00000469689.2:p.Leu1743=
ENST00000606715.3:n.1981T>A
NM_012309.4:c.5229T>A NP_036441.2:p.Leu1743=
NM_133266.4:c.3465T>A NP_573573.2:p.Leu1155=
NR_110766.1:n.1083T>A
XM_005277930.2:c.5229T>A XP_005277987.1:p.Leu1743=
XM_005277932.2:c.4092T>A XP_005277989.1:p.Leu1364=
XM_006718478.2:c.5199T>A XP_006718541.1:p.Leu1733=
XM_011544854.1:c.5241T>A XP_011543156.1:p.Leu1747=
XM_011544855.1:c.5220T>A XP_011543157.1:p.Leu1740=
XM_011544856.1:c.5214T>A XP_011543158.1:p.Leu1738=
XM_011544857.1:c.5193T>A XP_011543159.1:p.Leu1731=
XM_011544859.1:c.4104T>A XP_011543161.1:p.Leu1368=
XM_005277932.3:c.4092T>A XP_005277989.1:p.Leu1364=
XM_017017387.1:c.5229T>A XP_016872876.1:p.Leu1743=
XM_017017388.1:c.5229T>A XP_016872877.1:p.Leu1743=
XM_017017389.1:c.5202T>A XP_016872878.1:p.Leu1734=
XM_017017390.1:c.3519T>A XP_016872879.1:p.Leu1173=
NM_133266.5:c.3465T>A NP_573573.2:p.Leu1155=
NR_110766.2:n.1084T>A
NM_001379226.1:c.4092T>A NP_001366155.1:p.Leu1364=
NM_012309.5:c.5229T>A MANE Select NP_036441.2:p.Leu1743=