Canonical Allele Identifier: CA381676282

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319371T>A (hg19) ; chr11:g.70473266T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473266T>A , CM000673.2:g.70473266T>A	GRCh38
NC_000011.9:g.70319371T>A , CM000673.1:g.70319371T>A	GRCh37
NC_000011.8:g.69997019T>A	NCBI36
NG_042866.1:g.656531A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3386A>T	ENSP00000345193.7:p.Asn1129Ile
ENST00000412252.6:c.931A>T	ENSP00000414876.2:n.931A>T
ENST00000601538.6:c.5153A>T MANE Select	ENSP00000469689.2:p.Asn1718Ile
ENST00000654939.1:c.2662A>T
ENST00000656230.1:c.4016A>T	ENSP00000499561.1:p.Asn1339Ile
ENST00000659264.1:c.3443A>T	ENSP00000499270.1:p.Asn1148Ile
ENST00000338508.8:c.3389A>T	ENSP00000345193.6:p.Asn1130Ile
ENST00000357171.7:c.*157A>T	ENSP00000349694.4:n.*157A>T
ENST00000409161.5:c.3365A>T	ENSP00000386491.1:p.Asn1122Ile
ENST00000412252.5:c.929A>T
ENST00000423696.6:c.4016A>T	ENSP00000394536.2:p.Asn1339Ile
ENST00000424924.5:c.2990A>T	ENSP00000402944.1:p.Asn997Ile
ENST00000449833.6:c.3389A>T	ENSP00000399423.3:p.Asn1130Ile
ENST00000601538.5:c.5153A>T	ENSP00000469689.2:p.Asn1718Ile
ENST00000606715.3:n.1905A>T
NM_012309.4:c.5153A>T	NP_036441.2:p.Asn1718Ile
NM_133266.4:c.3389A>T	NP_573573.2:p.Asn1130Ile
NR_110766.1:n.1007A>T
XM_005277930.2:c.5153A>T	XP_005277987.1:p.Asn1718Ile
XM_005277932.2:c.4016A>T	XP_005277989.1:p.Asn1339Ile
XM_006718478.2:c.5123A>T	XP_006718541.1:p.Asn1708Ile
XM_011544854.1:c.5165A>T	XP_011543156.1:p.Asn1722Ile
XM_011544855.1:c.5144A>T	XP_011543157.1:p.Asn1715Ile
XM_011544856.1:c.5138A>T	XP_011543158.1:p.Asn1713Ile
XM_011544857.1:c.5117A>T	XP_011543159.1:p.Asn1706Ile
XM_011544859.1:c.4028A>T	XP_011543161.1:p.Asn1343Ile
XM_005277932.3:c.4016A>T	XP_005277989.1:p.Asn1339Ile
XM_017017387.1:c.5153A>T	XP_016872876.1:p.Asn1718Ile
XM_017017388.1:c.5153A>T	XP_016872877.1:p.Asn1718Ile
XM_017017389.1:c.5126A>T	XP_016872878.1:p.Asn1709Ile
XM_017017390.1:c.3443A>T	XP_016872879.1:p.Asn1148Ile
NM_133266.5:c.3389A>T	NP_573573.2:p.Asn1130Ile
NR_110766.2:n.1008A>T
NM_001379226.1:c.4016A>T	NP_001366155.1:p.Asn1339Ile
NM_012309.5:c.5153A>T MANE Select	NP_036441.2:p.Asn1718Ile