Canonical Allele Identifier: CA381676258

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319360G>T (hg19) ; chr11:g.70473255G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473255G>T , CM000673.2:g.70473255G>T	GRCh38
NC_000011.9:g.70319360G>T , CM000673.1:g.70319360G>T	GRCh37
NC_000011.8:g.69997008G>T	NCBI36
NG_042866.1:g.656542C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3397C>A	ENSP00000345193.7:p.Leu1133Met
ENST00000412252.6:c.942C>A	ENSP00000414876.2:n.942C>A
ENST00000601538.6:c.5164C>A MANE Select	ENSP00000469689.2:p.Leu1722Met
ENST00000654939.1:c.2673C>A
ENST00000656230.1:c.4027C>A	ENSP00000499561.1:p.Leu1343Met
ENST00000659264.1:c.3454C>A	ENSP00000499270.1:p.Leu1152Met
ENST00000338508.8:c.3400C>A	ENSP00000345193.6:p.Leu1134Met
ENST00000357171.7:c.*168C>A	ENSP00000349694.4:n.*168C>A
ENST00000409161.5:c.3376C>A	ENSP00000386491.1:p.Leu1126Met
ENST00000412252.5:c.940C>A
ENST00000423696.6:c.4027C>A	ENSP00000394536.2:p.Leu1343Met
ENST00000424924.5:c.3001C>A	ENSP00000402944.1:p.Leu1001Met
ENST00000449833.6:c.3400C>A	ENSP00000399423.3:p.Leu1134Met
ENST00000601538.5:c.5164C>A	ENSP00000469689.2:p.Leu1722Met
ENST00000606715.3:n.1916C>A
NM_012309.4:c.5164C>A	NP_036441.2:p.Leu1722Met
NM_133266.4:c.3400C>A	NP_573573.2:p.Leu1134Met
NR_110766.1:n.1018C>A
XM_005277930.2:c.5164C>A	XP_005277987.1:p.Leu1722Met
XM_005277932.2:c.4027C>A	XP_005277989.1:p.Leu1343Met
XM_006718478.2:c.5134C>A	XP_006718541.1:p.Leu1712Met
XM_011544854.1:c.5176C>A	XP_011543156.1:p.Leu1726Met
XM_011544855.1:c.5155C>A	XP_011543157.1:p.Leu1719Met
XM_011544856.1:c.5149C>A	XP_011543158.1:p.Leu1717Met
XM_011544857.1:c.5128C>A	XP_011543159.1:p.Leu1710Met
XM_011544859.1:c.4039C>A	XP_011543161.1:p.Leu1347Met
XM_005277932.3:c.4027C>A	XP_005277989.1:p.Leu1343Met
XM_017017387.1:c.5164C>A	XP_016872876.1:p.Leu1722Met
XM_017017388.1:c.5164C>A	XP_016872877.1:p.Leu1722Met
XM_017017389.1:c.5137C>A	XP_016872878.1:p.Leu1713Met
XM_017017390.1:c.3454C>A	XP_016872879.1:p.Leu1152Met
NM_133266.5:c.3400C>A	NP_573573.2:p.Leu1134Met
NR_110766.2:n.1019C>A
NM_001379226.1:c.4027C>A	NP_001366155.1:p.Leu1343Met
NM_012309.5:c.5164C>A MANE Select	NP_036441.2:p.Leu1722Met