Canonical Allele Identifier: CA381676111

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319307A>C (hg19) ; chr11:g.70473202A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473202A>C , CM000673.2:g.70473202A>C	GRCh38
NC_000011.9:g.70319307A>C , CM000673.1:g.70319307A>C	GRCh37
NC_000011.8:g.69996955A>C	NCBI36
NG_042866.1:g.656595T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3450T>G	ENSP00000345193.7:p.Asp1150Glu
ENST00000412252.6:c.995T>G	ENSP00000414876.2:n.995T>G
ENST00000601538.6:c.5217T>G MANE Select	ENSP00000469689.2:p.Asp1739Glu
ENST00000654939.1:c.2726T>G
ENST00000656230.1:c.4080T>G	ENSP00000499561.1:p.Asp1360Glu
ENST00000659264.1:c.3507T>G	ENSP00000499270.1:p.Asp1169Glu
ENST00000338508.8:c.3453T>G	ENSP00000345193.6:p.Asp1151Glu
ENST00000357171.7:c.*221T>G	ENSP00000349694.4:n.*221T>G
ENST00000409161.5:c.3429T>G	ENSP00000386491.1:p.Asp1143Glu
ENST00000412252.5:c.993T>G
ENST00000423696.6:c.4080T>G	ENSP00000394536.2:p.Asp1360Glu
ENST00000424924.5:c.3054T>G	ENSP00000402944.1:p.Asp1018Glu
ENST00000449833.6:c.3453T>G	ENSP00000399423.3:p.Asp1151Glu
ENST00000601538.5:c.5217T>G	ENSP00000469689.2:p.Asp1739Glu
ENST00000606715.3:n.1969T>G
NM_012309.4:c.5217T>G	NP_036441.2:p.Asp1739Glu
NM_133266.4:c.3453T>G	NP_573573.2:p.Asp1151Glu
NR_110766.1:n.1071T>G
XM_005277930.2:c.5217T>G	XP_005277987.1:p.Asp1739Glu
XM_005277932.2:c.4080T>G	XP_005277989.1:p.Asp1360Glu
XM_006718478.2:c.5187T>G	XP_006718541.1:p.Asp1729Glu
XM_011544854.1:c.5229T>G	XP_011543156.1:p.Asp1743Glu
XM_011544855.1:c.5208T>G	XP_011543157.1:p.Asp1736Glu
XM_011544856.1:c.5202T>G	XP_011543158.1:p.Asp1734Glu
XM_011544857.1:c.5181T>G	XP_011543159.1:p.Asp1727Glu
XM_011544859.1:c.4092T>G	XP_011543161.1:p.Asp1364Glu
XM_005277932.3:c.4080T>G	XP_005277989.1:p.Asp1360Glu
XM_017017387.1:c.5217T>G	XP_016872876.1:p.Asp1739Glu
XM_017017388.1:c.5217T>G	XP_016872877.1:p.Asp1739Glu
XM_017017389.1:c.5190T>G	XP_016872878.1:p.Asp1730Glu
XM_017017390.1:c.3507T>G	XP_016872879.1:p.Asp1169Glu
NM_133266.5:c.3453T>G	NP_573573.2:p.Asp1151Glu
NR_110766.2:n.1072T>G
NM_001379226.1:c.4080T>G	NP_001366155.1:p.Asp1360Glu
NM_012309.5:c.5217T>G MANE Select	NP_036441.2:p.Asp1739Glu