Canonical Allele Identifier: CA381676086

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319302A>C (hg19) ; chr11:g.70473197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473197A>C , CM000673.2:g.70473197A>C	GRCh38
NC_000011.9:g.70319302A>C , CM000673.1:g.70319302A>C	GRCh37
NC_000011.8:g.69996950A>C	NCBI36
NG_042866.1:g.656600T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3455T>G	ENSP00000345193.7:p.Phe1152Cys
ENST00000412252.6:c.1000T>G	ENSP00000414876.2:n.1000T>G
ENST00000601538.6:c.5222T>G MANE Select	ENSP00000469689.2:p.Phe1741Cys
ENST00000654939.1:c.2731T>G
ENST00000656230.1:c.4085T>G	ENSP00000499561.1:p.Phe1362Cys
ENST00000659264.1:c.3512T>G	ENSP00000499270.1:p.Phe1171Cys
ENST00000338508.8:c.3458T>G	ENSP00000345193.6:p.Phe1153Cys
ENST00000357171.7:c.*226T>G	ENSP00000349694.4:n.*226T>G
ENST00000409161.5:c.3434T>G	ENSP00000386491.1:p.Phe1145Cys
ENST00000412252.5:c.998T>G
ENST00000423696.6:c.4085T>G	ENSP00000394536.2:p.Phe1362Cys
ENST00000424924.5:c.3059T>G	ENSP00000402944.1:p.Phe1020Cys
ENST00000449833.6:c.3458T>G	ENSP00000399423.3:p.Phe1153Cys
ENST00000601538.5:c.5222T>G	ENSP00000469689.2:p.Phe1741Cys
ENST00000606715.3:n.1974T>G
NM_012309.4:c.5222T>G	NP_036441.2:p.Phe1741Cys
NM_133266.4:c.3458T>G	NP_573573.2:p.Phe1153Cys
NR_110766.1:n.1076T>G
XM_005277930.2:c.5222T>G	XP_005277987.1:p.Phe1741Cys
XM_005277932.2:c.4085T>G	XP_005277989.1:p.Phe1362Cys
XM_006718478.2:c.5192T>G	XP_006718541.1:p.Phe1731Cys
XM_011544854.1:c.5234T>G	XP_011543156.1:p.Phe1745Cys
XM_011544855.1:c.5213T>G	XP_011543157.1:p.Phe1738Cys
XM_011544856.1:c.5207T>G	XP_011543158.1:p.Phe1736Cys
XM_011544857.1:c.5186T>G	XP_011543159.1:p.Phe1729Cys
XM_011544859.1:c.4097T>G	XP_011543161.1:p.Phe1366Cys
XM_005277932.3:c.4085T>G	XP_005277989.1:p.Phe1362Cys
XM_017017387.1:c.5222T>G	XP_016872876.1:p.Phe1741Cys
XM_017017388.1:c.5222T>G	XP_016872877.1:p.Phe1741Cys
XM_017017389.1:c.5195T>G	XP_016872878.1:p.Phe1732Cys
XM_017017390.1:c.3512T>G	XP_016872879.1:p.Phe1171Cys
NM_133266.5:c.3458T>G	NP_573573.2:p.Phe1153Cys
NR_110766.2:n.1077T>G
NM_001379226.1:c.4085T>G	NP_001366155.1:p.Phe1362Cys
NM_012309.5:c.5222T>G MANE Select	NP_036441.2:p.Phe1741Cys