Canonical Allele Identifier: CA6160781

Gene: SHANK2

Linked Data

• dbSNP Id: rs782274989
• ExAC: 11:70319472 G / T
• gnomAD v2: 11-70319472-G-T
• gnomAD v4: 11-70473367-G-T
• MyVariant Identifiers: chr11:g.70319472G>T (hg19) ; chr11:g.70473367G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473367G>T , CM000673.2:g.70473367G>T	GRCh38
NC_000011.9:g.70319472G>T , CM000673.1:g.70319472G>T	GRCh37
NC_000011.8:g.69997120G>T	NCBI36
NG_042866.1:g.656430C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3285C>A	ENSP00000345193.7:p.Thr1095=
ENST00000412252.6:c.830C>A	ENSP00000414876.2:n.830C>A
ENST00000601538.6:c.5052C>A MANE Select	ENSP00000469689.2:p.Thr1684=
ENST00000654939.1:c.2561C>A
ENST00000656230.1:c.3915C>A	ENSP00000499561.1:p.Thr1305=
ENST00000659264.1:c.3342C>A	ENSP00000499270.1:p.Thr1114=
ENST00000338508.8:c.3288C>A	ENSP00000345193.6:p.Thr1096=
ENST00000357171.7:c.*56C>A	ENSP00000349694.4:n.*56C>A
ENST00000409161.5:c.3264C>A	ENSP00000386491.1:p.Thr1088=
ENST00000412252.5:c.828C>A
ENST00000423696.6:c.3915C>A	ENSP00000394536.2:p.Thr1305=
ENST00000424924.5:c.2889C>A	ENSP00000402944.1:p.Thr963=
ENST00000449833.6:c.3288C>A	ENSP00000399423.3:p.Thr1096=
ENST00000601538.5:c.5052C>A	ENSP00000469689.2:p.Thr1684=
ENST00000606715.3:n.1804C>A
NM_012309.4:c.5052C>A	NP_036441.2:p.Thr1684=
NM_133266.4:c.3288C>A	NP_573573.2:p.Thr1096=
NR_110766.1:n.906C>A
XM_005277930.2:c.5052C>A	XP_005277987.1:p.Thr1684=
XM_005277932.2:c.3915C>A	XP_005277989.1:p.Thr1305=
XM_006718478.2:c.5022C>A	XP_006718541.1:p.Thr1674=
XM_011544854.1:c.5064C>A	XP_011543156.1:p.Thr1688=
XM_011544855.1:c.5043C>A	XP_011543157.1:p.Thr1681=
XM_011544856.1:c.5037C>A	XP_011543158.1:p.Thr1679=
XM_011544857.1:c.5016C>A	XP_011543159.1:p.Thr1672=
XM_011544859.1:c.3927C>A	XP_011543161.1:p.Thr1309=
XM_005277932.3:c.3915C>A	XP_005277989.1:p.Thr1305=
XM_017017387.1:c.5052C>A	XP_016872876.1:p.Thr1684=
XM_017017388.1:c.5052C>A	XP_016872877.1:p.Thr1684=
XM_017017389.1:c.5025C>A	XP_016872878.1:p.Thr1675=
XM_017017390.1:c.3342C>A	XP_016872879.1:p.Thr1114=
NM_133266.5:c.3288C>A	NP_573573.2:p.Thr1096=
NR_110766.2:n.907C>A
NM_001379226.1:c.3915C>A	NP_001366155.1:p.Thr1305=
NM_012309.5:c.5052C>A MANE Select	NP_036441.2:p.Thr1684=