Canonical Allele Identifier: CA475700126

Gene: SHANK2

Linked Data

• COSMIC: COSM1265522 ; COSM1265523
• MyVariant Identifiers: chr11:g.70332197A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486092A>G , CM000673.2:g.70486092A>G	GRCh38
NC_000011.9:g.70332197A>G , CM000673.1:g.70332197A>G	GRCh37
NC_000011.8:g.70009845A>G	NCBI36
NG_042866.1:g.643705T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2434T>C	ENSP00000345193.7:p.Leu812=
ENST00000412252.6:c.757+4211T>C	ENSP00000414876.2:n.757+4211T>C
ENST00000601538.6:c.4201T>C MANE Select	ENSP00000469689.2:p.Leu1401=
ENST00000654939.1:c.1629T>C
ENST00000656230.1:c.3064T>C	ENSP00000499561.1:p.Leu1022=
ENST00000659264.1:c.2491T>C	ENSP00000499270.1:p.Leu831=
ENST00000338508.8:c.2437T>C	ENSP00000345193.6:p.Leu813=
ENST00000357171.7:c.718+4211T>C	ENSP00000349694.4:n.718+4211T>C
ENST00000409161.5:c.2413T>C	ENSP00000386491.1:p.Leu805=
ENST00000412252.5:c.755+4211T>C
ENST00000423696.6:c.3064T>C	ENSP00000394536.2:p.Leu1022=
ENST00000424924.5:c.2038T>C	ENSP00000402944.1:p.Leu680=
ENST00000449833.6:c.2437T>C	ENSP00000399423.3:p.Leu813=
ENST00000601538.5:c.4201T>C	ENSP00000469689.2:p.Leu1401=
NM_012309.4:c.4201T>C	NP_036441.2:p.Leu1401=
NM_133266.4:c.2437T>C	NP_573573.2:p.Leu813=
NR_110766.1:n.833+4211T>C
XM_005277930.2:c.4201T>C	XP_005277987.1:p.Leu1401=
XM_005277932.2:c.3064T>C	XP_005277989.1:p.Leu1022=
XM_006718478.2:c.4171T>C	XP_006718541.1:p.Leu1391=
XM_011544854.1:c.4213T>C	XP_011543156.1:p.Leu1405=
XM_011544855.1:c.4192T>C	XP_011543157.1:p.Leu1398=
XM_011544856.1:c.4186T>C	XP_011543158.1:p.Leu1396=
XM_011544857.1:c.4165T>C	XP_011543159.1:p.Leu1389=
XM_011544858.1:c.4213T>C	XP_011543160.1:p.Leu1405=
XM_011544859.1:c.3076T>C	XP_011543161.1:p.Leu1026=
XM_005277932.3:c.3064T>C	XP_005277989.1:p.Leu1022=
XM_017017387.1:c.4201T>C	XP_016872876.1:p.Leu1401=
XM_017017388.1:c.4201T>C	XP_016872877.1:p.Leu1401=
XM_017017389.1:c.4174T>C	XP_016872878.1:p.Leu1392=
XM_017017390.1:c.2491T>C	XP_016872879.1:p.Leu831=
NM_133266.5:c.2437T>C	NP_573573.2:p.Leu813=
NR_110766.2:n.834+4211T>C
NM_001379226.1:c.3064T>C	NP_001366155.1:p.Leu1022=
NM_012309.5:c.4201T>C MANE Select	NP_036441.2:p.Leu1401=