Canonical Allele Identifier: CA381676550

Gene: SHANK2

Linked Data

• dbSNP Id: rs1555149277
• gnomAD v2: 11-70319476-C-T
• gnomAD v4: 11-70473371-C-T
• MyVariant Identifiers: chr11:g.70319476C>T (hg19) ; chr11:g.70473371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473371C>T , CM000673.2:g.70473371C>T	GRCh38
NC_000011.9:g.70319476C>T , CM000673.1:g.70319476C>T	GRCh37
NC_000011.8:g.69997124C>T	NCBI36
NG_042866.1:g.656426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3281G>A	ENSP00000345193.7:p.Gly1094Asp
ENST00000412252.6:c.826G>A	ENSP00000414876.2:n.826G>A
ENST00000601538.6:c.5048G>A MANE Select	ENSP00000469689.2:p.Gly1683Asp
ENST00000654939.1:c.2557G>A
ENST00000656230.1:c.3911G>A	ENSP00000499561.1:p.Gly1304Asp
ENST00000659264.1:c.3338G>A	ENSP00000499270.1:p.Gly1113Asp
ENST00000338508.8:c.3284G>A	ENSP00000345193.6:p.Gly1095Asp
ENST00000357171.7:c.*52G>A	ENSP00000349694.4:n.*52G>A
ENST00000409161.5:c.3260G>A	ENSP00000386491.1:p.Gly1087Asp
ENST00000412252.5:c.824G>A
ENST00000423696.6:c.3911G>A	ENSP00000394536.2:p.Gly1304Asp
ENST00000424924.5:c.2885G>A	ENSP00000402944.1:p.Gly962Asp
ENST00000449833.6:c.3284G>A	ENSP00000399423.3:p.Gly1095Asp
ENST00000601538.5:c.5048G>A	ENSP00000469689.2:p.Gly1683Asp
ENST00000606715.3:n.1800G>A
NM_012309.4:c.5048G>A	NP_036441.2:p.Gly1683Asp
NM_133266.4:c.3284G>A	NP_573573.2:p.Gly1095Asp
NR_110766.1:n.902G>A
XM_005277930.2:c.5048G>A	XP_005277987.1:p.Gly1683Asp
XM_005277932.2:c.3911G>A	XP_005277989.1:p.Gly1304Asp
XM_006718478.2:c.5018G>A	XP_006718541.1:p.Gly1673Asp
XM_011544854.1:c.5060G>A	XP_011543156.1:p.Gly1687Asp
XM_011544855.1:c.5039G>A	XP_011543157.1:p.Gly1680Asp
XM_011544856.1:c.5033G>A	XP_011543158.1:p.Gly1678Asp
XM_011544857.1:c.5012G>A	XP_011543159.1:p.Gly1671Asp
XM_011544859.1:c.3923G>A	XP_011543161.1:p.Gly1308Asp
XM_005277932.3:c.3911G>A	XP_005277989.1:p.Gly1304Asp
XM_017017387.1:c.5048G>A	XP_016872876.1:p.Gly1683Asp
XM_017017388.1:c.5048G>A	XP_016872877.1:p.Gly1683Asp
XM_017017389.1:c.5021G>A	XP_016872878.1:p.Gly1674Asp
XM_017017390.1:c.3338G>A	XP_016872879.1:p.Gly1113Asp
NM_133266.5:c.3284G>A	NP_573573.2:p.Gly1095Asp
NR_110766.2:n.903G>A
NM_001379226.1:c.3911G>A	NP_001366155.1:p.Gly1304Asp
NM_012309.5:c.5048G>A MANE Select	NP_036441.2:p.Gly1683Asp