Canonical Allele Identifier: CA381675620

Gene: SHANK2

Linked Data

• dbSNP Id: rs782348031
• gnomAD v2: 11-70319218-A-T
• gnomAD v3: 11-70473113-A-T
• gnomAD v4: 11-70473113-A-T
• COSMIC: COSM5839478 ; COSM5839479 ; COSM5839480
• MyVariant Identifiers: chr11:g.70319218A>T (hg19) ; chr11:g.70473113A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473113A>T , CM000673.2:g.70473113A>T	GRCh38
NC_000011.9:g.70319218A>T , CM000673.1:g.70319218A>T	GRCh37
NC_000011.8:g.69996866A>T	NCBI36
NG_042866.1:g.656684T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3539T>A	ENSP00000345193.7:p.Leu1180Gln
ENST00000412252.6:c.1084T>A	ENSP00000414876.2:n.1084T>A
ENST00000601538.6:c.5306T>A MANE Select	ENSP00000469689.2:p.Leu1769Gln
ENST00000654939.1:c.2815T>A
ENST00000656230.1:c.4169T>A	ENSP00000499561.1:p.Leu1390Gln
ENST00000659264.1:c.3596T>A	ENSP00000499270.1:p.Leu1199Gln
ENST00000338508.8:c.3542T>A	ENSP00000345193.6:p.Leu1181Gln
ENST00000357171.7:c.*310T>A	ENSP00000349694.4:n.*310T>A
ENST00000409161.5:c.3518T>A	ENSP00000386491.1:p.Leu1173Gln
ENST00000412252.5:c.1082T>A
ENST00000423696.6:c.4169T>A	ENSP00000394536.2:p.Leu1390Gln
ENST00000424924.5:c.3143T>A	ENSP00000402944.1:p.Leu1048Gln
ENST00000449833.6:c.3542T>A	ENSP00000399423.3:p.Leu1181Gln
ENST00000601538.5:c.5306T>A	ENSP00000469689.2:p.Leu1769Gln
ENST00000606715.3:n.2058T>A
NM_012309.4:c.5306T>A	NP_036441.2:p.Leu1769Gln
NM_133266.4:c.3542T>A	NP_573573.2:p.Leu1181Gln
NR_110766.1:n.1160T>A
XM_005277930.2:c.5306T>A	XP_005277987.1:p.Leu1769Gln
XM_005277932.2:c.4169T>A	XP_005277989.1:p.Leu1390Gln
XM_006718478.2:c.5276T>A	XP_006718541.1:p.Leu1759Gln
XM_011544854.1:c.5318T>A	XP_011543156.1:p.Leu1773Gln
XM_011544855.1:c.5297T>A	XP_011543157.1:p.Leu1766Gln
XM_011544856.1:c.5291T>A	XP_011543158.1:p.Leu1764Gln
XM_011544857.1:c.5270T>A	XP_011543159.1:p.Leu1757Gln
XM_011544859.1:c.4181T>A	XP_011543161.1:p.Leu1394Gln
XM_005277932.3:c.4169T>A	XP_005277989.1:p.Leu1390Gln
XM_017017387.1:c.5306T>A	XP_016872876.1:p.Leu1769Gln
XM_017017388.1:c.5306T>A	XP_016872877.1:p.Leu1769Gln
XM_017017389.1:c.5279T>A	XP_016872878.1:p.Leu1760Gln
XM_017017390.1:c.3596T>A	XP_016872879.1:p.Leu1199Gln
NM_133266.5:c.3542T>A	NP_573573.2:p.Leu1181Gln
NR_110766.2:n.1161T>A
NM_001379226.1:c.4169T>A	NP_001366155.1:p.Leu1390Gln
NM_012309.5:c.5306T>A MANE Select	NP_036441.2:p.Leu1769Gln