Canonical Allele Identifier: CA381675876

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319263C>T (hg19) ; chr11:g.70473158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473158C>T , CM000673.2:g.70473158C>T	GRCh38
NC_000011.9:g.70319263C>T , CM000673.1:g.70319263C>T	GRCh37
NC_000011.8:g.69996911C>T	NCBI36
NG_042866.1:g.656639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3494G>A	ENSP00000345193.7:p.Gly1165Asp
ENST00000412252.6:c.1039G>A	ENSP00000414876.2:n.1039G>A
ENST00000601538.6:c.5261G>A MANE Select	ENSP00000469689.2:p.Gly1754Asp
ENST00000654939.1:c.2770G>A
ENST00000656230.1:c.4124G>A	ENSP00000499561.1:p.Gly1375Asp
ENST00000659264.1:c.3551G>A	ENSP00000499270.1:p.Gly1184Asp
ENST00000338508.8:c.3497G>A	ENSP00000345193.6:p.Gly1166Asp
ENST00000357171.7:c.*265G>A	ENSP00000349694.4:n.*265G>A
ENST00000409161.5:c.3473G>A	ENSP00000386491.1:p.Gly1158Asp
ENST00000412252.5:c.1037G>A
ENST00000423696.6:c.4124G>A	ENSP00000394536.2:p.Gly1375Asp
ENST00000424924.5:c.3098G>A	ENSP00000402944.1:p.Gly1033Asp
ENST00000449833.6:c.3497G>A	ENSP00000399423.3:p.Gly1166Asp
ENST00000601538.5:c.5261G>A	ENSP00000469689.2:p.Gly1754Asp
ENST00000606715.3:n.2013G>A
NM_012309.4:c.5261G>A	NP_036441.2:p.Gly1754Asp
NM_133266.4:c.3497G>A	NP_573573.2:p.Gly1166Asp
NR_110766.1:n.1115G>A
XM_005277930.2:c.5261G>A	XP_005277987.1:p.Gly1754Asp
XM_005277932.2:c.4124G>A	XP_005277989.1:p.Gly1375Asp
XM_006718478.2:c.5231G>A	XP_006718541.1:p.Gly1744Asp
XM_011544854.1:c.5273G>A	XP_011543156.1:p.Gly1758Asp
XM_011544855.1:c.5252G>A	XP_011543157.1:p.Gly1751Asp
XM_011544856.1:c.5246G>A	XP_011543158.1:p.Gly1749Asp
XM_011544857.1:c.5225G>A	XP_011543159.1:p.Gly1742Asp
XM_011544859.1:c.4136G>A	XP_011543161.1:p.Gly1379Asp
XM_005277932.3:c.4124G>A	XP_005277989.1:p.Gly1375Asp
XM_017017387.1:c.5261G>A	XP_016872876.1:p.Gly1754Asp
XM_017017388.1:c.5261G>A	XP_016872877.1:p.Gly1754Asp
XM_017017389.1:c.5234G>A	XP_016872878.1:p.Gly1745Asp
XM_017017390.1:c.3551G>A	XP_016872879.1:p.Gly1184Asp
NM_133266.5:c.3497G>A	NP_573573.2:p.Gly1166Asp
NR_110766.2:n.1116G>A
NM_001379226.1:c.4124G>A	NP_001366155.1:p.Gly1375Asp
NM_012309.5:c.5261G>A MANE Select	NP_036441.2:p.Gly1754Asp