Canonical Allele Identifier: CA381676048

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319296A>T (hg19) ; chr11:g.70473191A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473191A>T , CM000673.2:g.70473191A>T	GRCh38
NC_000011.9:g.70319296A>T , CM000673.1:g.70319296A>T	GRCh37
NC_000011.8:g.69996944A>T	NCBI36
NG_042866.1:g.656606T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3461T>A	ENSP00000345193.7:p.Leu1154His
ENST00000412252.6:c.1006T>A	ENSP00000414876.2:n.1006T>A
ENST00000601538.6:c.5228T>A MANE Select	ENSP00000469689.2:p.Leu1743His
ENST00000654939.1:c.2737T>A
ENST00000656230.1:c.4091T>A	ENSP00000499561.1:p.Leu1364His
ENST00000659264.1:c.3518T>A	ENSP00000499270.1:p.Leu1173His
ENST00000338508.8:c.3464T>A	ENSP00000345193.6:p.Leu1155His
ENST00000357171.7:c.*232T>A	ENSP00000349694.4:n.*232T>A
ENST00000409161.5:c.3440T>A	ENSP00000386491.1:p.Leu1147His
ENST00000412252.5:c.1004T>A
ENST00000423696.6:c.4091T>A	ENSP00000394536.2:p.Leu1364His
ENST00000424924.5:c.3065T>A	ENSP00000402944.1:p.Leu1022His
ENST00000449833.6:c.3464T>A	ENSP00000399423.3:p.Leu1155His
ENST00000601538.5:c.5228T>A	ENSP00000469689.2:p.Leu1743His
ENST00000606715.3:n.1980T>A
NM_012309.4:c.5228T>A	NP_036441.2:p.Leu1743His
NM_133266.4:c.3464T>A	NP_573573.2:p.Leu1155His
NR_110766.1:n.1082T>A
XM_005277930.2:c.5228T>A	XP_005277987.1:p.Leu1743His
XM_005277932.2:c.4091T>A	XP_005277989.1:p.Leu1364His
XM_006718478.2:c.5198T>A	XP_006718541.1:p.Leu1733His
XM_011544854.1:c.5240T>A	XP_011543156.1:p.Leu1747His
XM_011544855.1:c.5219T>A	XP_011543157.1:p.Leu1740His
XM_011544856.1:c.5213T>A	XP_011543158.1:p.Leu1738His
XM_011544857.1:c.5192T>A	XP_011543159.1:p.Leu1731His
XM_011544859.1:c.4103T>A	XP_011543161.1:p.Leu1368His
XM_005277932.3:c.4091T>A	XP_005277989.1:p.Leu1364His
XM_017017387.1:c.5228T>A	XP_016872876.1:p.Leu1743His
XM_017017388.1:c.5228T>A	XP_016872877.1:p.Leu1743His
XM_017017389.1:c.5201T>A	XP_016872878.1:p.Leu1734His
XM_017017390.1:c.3518T>A	XP_016872879.1:p.Leu1173His
NM_133266.5:c.3464T>A	NP_573573.2:p.Leu1155His
NR_110766.2:n.1083T>A
NM_001379226.1:c.4091T>A	NP_001366155.1:p.Leu1364His
NM_012309.5:c.5228T>A MANE Select	NP_036441.2:p.Leu1743His