Canonical Allele Identifier: CA381675379

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319189T>C (hg19) ; chr11:g.70473084T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3568A>G	ENSP00000345193.7:p.Thr1190Ala
ENST00000412252.6:c.1113A>G	ENSP00000414876.2:n.1113A>G
ENST00000601538.6:c.5335A>G MANE Select	ENSP00000469689.2:p.Thr1779Ala
ENST00000654939.1:c.2844A>G
ENST00000656230.1:c.4198A>G	ENSP00000499561.1:p.Thr1400Ala
ENST00000659264.1:c.3625A>G	ENSP00000499270.1:p.Thr1209Ala
ENST00000338508.8:c.3571A>G	ENSP00000345193.6:p.Thr1191Ala
ENST00000357171.7:c.*339A>G	ENSP00000349694.4:n.*339A>G
ENST00000409161.5:c.3547A>G	ENSP00000386491.1:p.Thr1183Ala
ENST00000412252.5:c.1111A>G
ENST00000423696.6:c.4198A>G	ENSP00000394536.2:p.Thr1400Ala
ENST00000424924.5:c.3172A>G	ENSP00000402944.1:p.Thr1058Ala
ENST00000449833.6:c.3571A>G	ENSP00000399423.3:p.Thr1191Ala
ENST00000601538.5:c.5335A>G	ENSP00000469689.2:p.Thr1779Ala
ENST00000606715.3:n.2087A>G
NM_012309.4:c.5335A>G	NP_036441.2:p.Thr1779Ala
NM_133266.4:c.3571A>G	NP_573573.2:p.Thr1191Ala
NR_110766.1:n.1189A>G
XM_005277930.2:c.5335A>G	XP_005277987.1:p.Thr1779Ala
XM_005277932.2:c.4198A>G	XP_005277989.1:p.Thr1400Ala
XM_006718478.2:c.5305A>G	XP_006718541.1:p.Thr1769Ala
XM_011544854.1:c.5347A>G	XP_011543156.1:p.Thr1783Ala
XM_011544855.1:c.5326A>G	XP_011543157.1:p.Thr1776Ala
XM_011544856.1:c.5320A>G	XP_011543158.1:p.Thr1774Ala
XM_011544857.1:c.5299A>G	XP_011543159.1:p.Thr1767Ala
XM_011544859.1:c.4210A>G	XP_011543161.1:p.Thr1404Ala
XM_005277932.3:c.4198A>G	XP_005277989.1:p.Thr1400Ala
XM_017017387.1:c.5335A>G	XP_016872876.1:p.Thr1779Ala
XM_017017388.1:c.5335A>G	XP_016872877.1:p.Thr1779Ala
XM_017017389.1:c.5308A>G	XP_016872878.1:p.Thr1770Ala
XM_017017390.1:c.3625A>G	XP_016872879.1:p.Thr1209Ala
NM_133266.5:c.3571A>G	NP_573573.2:p.Thr1191Ala
NR_110766.2:n.1190A>G
NM_001379226.1:c.4198A>G	NP_001366155.1:p.Thr1400Ala
NM_012309.5:c.5335A>G MANE Select	NP_036441.2:p.Thr1779Ala