Canonical Allele Identifier: CA381675465

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319199A>C (hg19) ; chr11:g.70473094A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473094A>C , CM000673.2:g.70473094A>C	GRCh38
NC_000011.9:g.70319199A>C , CM000673.1:g.70319199A>C	GRCh37
NC_000011.8:g.69996847A>C	NCBI36
NG_042866.1:g.656703T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3558T>G	ENSP00000345193.7:p.Asn1186Lys
ENST00000412252.6:c.1103T>G	ENSP00000414876.2:n.1103T>G
ENST00000601538.6:c.5325T>G MANE Select	ENSP00000469689.2:p.Asn1775Lys
ENST00000654939.1:c.2834T>G
ENST00000656230.1:c.4188T>G	ENSP00000499561.1:p.Asn1396Lys
ENST00000659264.1:c.3615T>G	ENSP00000499270.1:p.Asn1205Lys
ENST00000338508.8:c.3561T>G	ENSP00000345193.6:p.Asn1187Lys
ENST00000357171.7:c.*329T>G	ENSP00000349694.4:n.*329T>G
ENST00000409161.5:c.3537T>G	ENSP00000386491.1:p.Asn1179Lys
ENST00000412252.5:c.1101T>G
ENST00000423696.6:c.4188T>G	ENSP00000394536.2:p.Asn1396Lys
ENST00000424924.5:c.3162T>G	ENSP00000402944.1:p.Asn1054Lys
ENST00000449833.6:c.3561T>G	ENSP00000399423.3:p.Asn1187Lys
ENST00000601538.5:c.5325T>G	ENSP00000469689.2:p.Asn1775Lys
ENST00000606715.3:n.2077T>G
NM_012309.4:c.5325T>G	NP_036441.2:p.Asn1775Lys
NM_133266.4:c.3561T>G	NP_573573.2:p.Asn1187Lys
NR_110766.1:n.1179T>G
XM_005277930.2:c.5325T>G	XP_005277987.1:p.Asn1775Lys
XM_005277932.2:c.4188T>G	XP_005277989.1:p.Asn1396Lys
XM_006718478.2:c.5295T>G	XP_006718541.1:p.Asn1765Lys
XM_011544854.1:c.5337T>G	XP_011543156.1:p.Asn1779Lys
XM_011544855.1:c.5316T>G	XP_011543157.1:p.Asn1772Lys
XM_011544856.1:c.5310T>G	XP_011543158.1:p.Asn1770Lys
XM_011544857.1:c.5289T>G	XP_011543159.1:p.Asn1763Lys
XM_011544859.1:c.4200T>G	XP_011543161.1:p.Asn1400Lys
XM_005277932.3:c.4188T>G	XP_005277989.1:p.Asn1396Lys
XM_017017387.1:c.5325T>G	XP_016872876.1:p.Asn1775Lys
XM_017017388.1:c.5325T>G	XP_016872877.1:p.Asn1775Lys
XM_017017389.1:c.5298T>G	XP_016872878.1:p.Asn1766Lys
XM_017017390.1:c.3615T>G	XP_016872879.1:p.Asn1205Lys
NM_133266.5:c.3561T>G	NP_573573.2:p.Asn1187Lys
NR_110766.2:n.1180T>G
NM_001379226.1:c.4188T>G	NP_001366155.1:p.Asn1396Lys
NM_012309.5:c.5325T>G MANE Select	NP_036441.2:p.Asn1775Lys