Canonical Allele Identifier: CA381675807

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473141-G-A
• COSMIC: COSM4036321 ; COSM4036322 ; COSM4906727
• MyVariant Identifiers: chr11:g.70319246G>A (hg19) ; chr11:g.70473141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473141G>A , CM000673.2:g.70473141G>A	GRCh38
NC_000011.9:g.70319246G>A , CM000673.1:g.70319246G>A	GRCh37
NC_000011.8:g.69996894G>A	NCBI36
NG_042866.1:g.656656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3511C>T	ENSP00000345193.7:p.Arg1171Cys
ENST00000412252.6:c.1056C>T	ENSP00000414876.2:n.1056C>T
ENST00000601538.6:c.5278C>T MANE Select	ENSP00000469689.2:p.Arg1760Cys
ENST00000654939.1:c.2787C>T
ENST00000656230.1:c.4141C>T	ENSP00000499561.1:p.Arg1381Cys
ENST00000659264.1:c.3568C>T	ENSP00000499270.1:p.Arg1190Cys
ENST00000338508.8:c.3514C>T	ENSP00000345193.6:p.Arg1172Cys
ENST00000357171.7:c.*282C>T	ENSP00000349694.4:n.*282C>T
ENST00000409161.5:c.3490C>T	ENSP00000386491.1:p.Arg1164Cys
ENST00000412252.5:c.1054C>T
ENST00000423696.6:c.4141C>T	ENSP00000394536.2:p.Arg1381Cys
ENST00000424924.5:c.3115C>T	ENSP00000402944.1:p.Arg1039Cys
ENST00000449833.6:c.3514C>T	ENSP00000399423.3:p.Arg1172Cys
ENST00000601538.5:c.5278C>T	ENSP00000469689.2:p.Arg1760Cys
ENST00000606715.3:n.2030C>T
NM_012309.4:c.5278C>T	NP_036441.2:p.Arg1760Cys
NM_133266.4:c.3514C>T	NP_573573.2:p.Arg1172Cys
NR_110766.1:n.1132C>T
XM_005277930.2:c.5278C>T	XP_005277987.1:p.Arg1760Cys
XM_005277932.2:c.4141C>T	XP_005277989.1:p.Arg1381Cys
XM_006718478.2:c.5248C>T	XP_006718541.1:p.Arg1750Cys
XM_011544854.1:c.5290C>T	XP_011543156.1:p.Arg1764Cys
XM_011544855.1:c.5269C>T	XP_011543157.1:p.Arg1757Cys
XM_011544856.1:c.5263C>T	XP_011543158.1:p.Arg1755Cys
XM_011544857.1:c.5242C>T	XP_011543159.1:p.Arg1748Cys
XM_011544859.1:c.4153C>T	XP_011543161.1:p.Arg1385Cys
XM_005277932.3:c.4141C>T	XP_005277989.1:p.Arg1381Cys
XM_017017387.1:c.5278C>T	XP_016872876.1:p.Arg1760Cys
XM_017017388.1:c.5278C>T	XP_016872877.1:p.Arg1760Cys
XM_017017389.1:c.5251C>T	XP_016872878.1:p.Arg1751Cys
XM_017017390.1:c.3568C>T	XP_016872879.1:p.Arg1190Cys
NM_133266.5:c.3514C>T	NP_573573.2:p.Arg1172Cys
NR_110766.2:n.1133C>T
NM_001379226.1:c.4141C>T	NP_001366155.1:p.Arg1381Cys
NM_012309.5:c.5278C>T MANE Select	NP_036441.2:p.Arg1760Cys