Canonical Allele Identifier: CA381676768

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319516C>A (hg19) ; chr11:g.70473411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473411C>A , CM000673.2:g.70473411C>A	GRCh38
NC_000011.9:g.70319516C>A , CM000673.1:g.70319516C>A	GRCh37
NC_000011.8:g.69997164C>A	NCBI36
NG_042866.1:g.656386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3241G>T	ENSP00000345193.7:p.Gly1081Cys
ENST00000412252.6:c.786G>T	ENSP00000414876.2:n.786G>T
ENST00000601538.6:c.5008G>T MANE Select	ENSP00000469689.2:p.Gly1670Cys
ENST00000654939.1:c.2517G>T
ENST00000656230.1:c.3871G>T	ENSP00000499561.1:p.Gly1291Cys
ENST00000659264.1:c.3298G>T	ENSP00000499270.1:p.Gly1100Cys
ENST00000338508.8:c.3244G>T	ENSP00000345193.6:p.Gly1082Cys
ENST00000357171.7:c.*12G>T	ENSP00000349694.4:n.*12G>T
ENST00000409161.5:c.3220G>T	ENSP00000386491.1:p.Gly1074Cys
ENST00000412252.5:c.784G>T
ENST00000423696.6:c.3871G>T	ENSP00000394536.2:p.Gly1291Cys
ENST00000424924.5:c.2845G>T	ENSP00000402944.1:p.Gly949Cys
ENST00000449833.6:c.3244G>T	ENSP00000399423.3:p.Gly1082Cys
ENST00000601538.5:c.5008G>T	ENSP00000469689.2:p.Gly1670Cys
ENST00000606715.3:n.1760G>T
NM_012309.4:c.5008G>T	NP_036441.2:p.Gly1670Cys
NM_133266.4:c.3244G>T	NP_573573.2:p.Gly1082Cys
NR_110766.1:n.862G>T
XM_005277930.2:c.5008G>T	XP_005277987.1:p.Gly1670Cys
XM_005277932.2:c.3871G>T	XP_005277989.1:p.Gly1291Cys
XM_006718478.2:c.4978G>T	XP_006718541.1:p.Gly1660Cys
XM_011544854.1:c.5020G>T	XP_011543156.1:p.Gly1674Cys
XM_011544855.1:c.4999G>T	XP_011543157.1:p.Gly1667Cys
XM_011544856.1:c.4993G>T	XP_011543158.1:p.Gly1665Cys
XM_011544857.1:c.4972G>T	XP_011543159.1:p.Gly1658Cys
XM_011544859.1:c.3883G>T	XP_011543161.1:p.Gly1295Cys
XM_005277932.3:c.3871G>T	XP_005277989.1:p.Gly1291Cys
XM_017017387.1:c.5008G>T	XP_016872876.1:p.Gly1670Cys
XM_017017388.1:c.5008G>T	XP_016872877.1:p.Gly1670Cys
XM_017017389.1:c.4981G>T	XP_016872878.1:p.Gly1661Cys
XM_017017390.1:c.3298G>T	XP_016872879.1:p.Gly1100Cys
NM_133266.5:c.3244G>T	NP_573573.2:p.Gly1082Cys
NR_110766.2:n.863G>T
NM_001379226.1:c.3871G>T	NP_001366155.1:p.Gly1291Cys
NM_012309.5:c.5008G>T MANE Select	NP_036441.2:p.Gly1670Cys