Canonical Allele Identifier: CA6160789

Gene: SHANK2

Linked Data

• dbSNP Id: rs782116821
• ExAC: 11:70319529 C / T
• gnomAD v2: 11-70319529-C-T
• gnomAD v3: 11-70473424-C-T
• gnomAD v4: 11-70473424-C-T
• MyVariant Identifiers: chr11:g.70319529C>T (hg19) ; chr11:g.70473424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473424C>T , CM000673.2:g.70473424C>T	GRCh38
NC_000011.9:g.70319529C>T , CM000673.1:g.70319529C>T	GRCh37
NC_000011.8:g.69997177C>T	NCBI36
NG_042866.1:g.656373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3228G>A	ENSP00000345193.7:p.Met1076Ile
ENST00000412252.6:c.773G>A	ENSP00000414876.2:p.Ter258=
ENST00000601538.6:c.4995G>A MANE Select	ENSP00000469689.2:p.Met1665Ile
ENST00000654939.1:c.2504G>A
ENST00000656230.1:c.3858G>A	ENSP00000499561.1:p.Met1286Ile
ENST00000659264.1:c.3285G>A	ENSP00000499270.1:p.Met1095Ile
ENST00000338508.8:c.3231G>A	ENSP00000345193.6:p.Met1077Ile
ENST00000357171.7:c.734G>A	ENSP00000349694.4:p.Ter245=
ENST00000409161.5:c.3207G>A	ENSP00000386491.1:p.Met1069Ile
ENST00000412252.5:c.771G>A
ENST00000423696.6:c.3858G>A	ENSP00000394536.2:p.Met1286Ile
ENST00000424924.5:c.2832G>A	ENSP00000402944.1:p.Met944Ile
ENST00000449833.6:c.3231G>A	ENSP00000399423.3:p.Met1077Ile
ENST00000601538.5:c.4995G>A	ENSP00000469689.2:p.Met1665Ile
ENST00000606715.3:n.1747G>A
NM_012309.4:c.4995G>A	NP_036441.2:p.Met1665Ile
NM_133266.4:c.3231G>A	NP_573573.2:p.Met1077Ile
NR_110766.1:n.849G>A
XM_005277930.2:c.4995G>A	XP_005277987.1:p.Met1665Ile
XM_005277932.2:c.3858G>A	XP_005277989.1:p.Met1286Ile
XM_006718478.2:c.4965G>A	XP_006718541.1:p.Met1655Ile
XM_011544854.1:c.5007G>A	XP_011543156.1:p.Met1669Ile
XM_011544855.1:c.4986G>A	XP_011543157.1:p.Met1662Ile
XM_011544856.1:c.4980G>A	XP_011543158.1:p.Met1660Ile
XM_011544857.1:c.4959G>A	XP_011543159.1:p.Met1653Ile
XM_011544859.1:c.3870G>A	XP_011543161.1:p.Met1290Ile
XM_005277932.3:c.3858G>A	XP_005277989.1:p.Met1286Ile
XM_017017387.1:c.4995G>A	XP_016872876.1:p.Met1665Ile
XM_017017388.1:c.4995G>A	XP_016872877.1:p.Met1665Ile
XM_017017389.1:c.4968G>A	XP_016872878.1:p.Met1656Ile
XM_017017390.1:c.3285G>A	XP_016872879.1:p.Met1095Ile
NM_133266.5:c.3231G>A	NP_573573.2:p.Met1077Ile
NR_110766.2:n.850G>A
NM_001379226.1:c.3858G>A	NP_001366155.1:p.Met1286Ile
NM_012309.5:c.4995G>A MANE Select	NP_036441.2:p.Met1665Ile