Canonical Allele Identifier: CA381675381

Gene: SHANK2

Linked Data

• dbSNP Id: rs1268117213
• gnomAD v3: 11-70473084-T-A
• gnomAD v4: 11-70473084-T-A
• MyVariant Identifiers: chr11:g.70319189T>A (hg19) ; chr11:g.70473084T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473084T>A , CM000673.2:g.70473084T>A	GRCh38
NC_000011.9:g.70319189T>A , CM000673.1:g.70319189T>A	GRCh37
NC_000011.8:g.69996837T>A	NCBI36
NG_042866.1:g.656713A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3568A>T	ENSP00000345193.7:p.Thr1190Ser
ENST00000412252.6:c.1113A>T	ENSP00000414876.2:n.1113A>T
ENST00000601538.6:c.5335A>T MANE Select	ENSP00000469689.2:p.Thr1779Ser
ENST00000654939.1:c.2844A>T
ENST00000656230.1:c.4198A>T	ENSP00000499561.1:p.Thr1400Ser
ENST00000659264.1:c.3625A>T	ENSP00000499270.1:p.Thr1209Ser
ENST00000338508.8:c.3571A>T	ENSP00000345193.6:p.Thr1191Ser
ENST00000357171.7:c.*339A>T	ENSP00000349694.4:n.*339A>T
ENST00000409161.5:c.3547A>T	ENSP00000386491.1:p.Thr1183Ser
ENST00000412252.5:c.1111A>T
ENST00000423696.6:c.4198A>T	ENSP00000394536.2:p.Thr1400Ser
ENST00000424924.5:c.3172A>T	ENSP00000402944.1:p.Thr1058Ser
ENST00000449833.6:c.3571A>T	ENSP00000399423.3:p.Thr1191Ser
ENST00000601538.5:c.5335A>T	ENSP00000469689.2:p.Thr1779Ser
ENST00000606715.3:n.2087A>T
NM_012309.4:c.5335A>T	NP_036441.2:p.Thr1779Ser
NM_133266.4:c.3571A>T	NP_573573.2:p.Thr1191Ser
NR_110766.1:n.1189A>T
XM_005277930.2:c.5335A>T	XP_005277987.1:p.Thr1779Ser
XM_005277932.2:c.4198A>T	XP_005277989.1:p.Thr1400Ser
XM_006718478.2:c.5305A>T	XP_006718541.1:p.Thr1769Ser
XM_011544854.1:c.5347A>T	XP_011543156.1:p.Thr1783Ser
XM_011544855.1:c.5326A>T	XP_011543157.1:p.Thr1776Ser
XM_011544856.1:c.5320A>T	XP_011543158.1:p.Thr1774Ser
XM_011544857.1:c.5299A>T	XP_011543159.1:p.Thr1767Ser
XM_011544859.1:c.4210A>T	XP_011543161.1:p.Thr1404Ser
XM_005277932.3:c.4198A>T	XP_005277989.1:p.Thr1400Ser
XM_017017387.1:c.5335A>T	XP_016872876.1:p.Thr1779Ser
XM_017017388.1:c.5335A>T	XP_016872877.1:p.Thr1779Ser
XM_017017389.1:c.5308A>T	XP_016872878.1:p.Thr1770Ser
XM_017017390.1:c.3625A>T	XP_016872879.1:p.Thr1209Ser
NM_133266.5:c.3571A>T	NP_573573.2:p.Thr1191Ser
NR_110766.2:n.1190A>T
NM_001379226.1:c.4198A>T	NP_001366155.1:p.Thr1400Ser
NM_012309.5:c.5335A>T MANE Select	NP_036441.2:p.Thr1779Ser