Canonical Allele Identifier: CA381675800

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319243T>A (hg19) ; chr11:g.70473138T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473138T>A , CM000673.2:g.70473138T>A	GRCh38
NC_000011.9:g.70319243T>A , CM000673.1:g.70319243T>A	GRCh37
NC_000011.8:g.69996891T>A	NCBI36
NG_042866.1:g.656659A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3514A>T	ENSP00000345193.7:p.Ser1172Cys
ENST00000412252.6:c.1059A>T	ENSP00000414876.2:n.1059A>T
ENST00000601538.6:c.5281A>T MANE Select	ENSP00000469689.2:p.Ser1761Cys
ENST00000654939.1:c.2790A>T
ENST00000656230.1:c.4144A>T	ENSP00000499561.1:p.Ser1382Cys
ENST00000659264.1:c.3571A>T	ENSP00000499270.1:p.Ser1191Cys
ENST00000338508.8:c.3517A>T	ENSP00000345193.6:p.Ser1173Cys
ENST00000357171.7:c.*285A>T	ENSP00000349694.4:n.*285A>T
ENST00000409161.5:c.3493A>T	ENSP00000386491.1:p.Ser1165Cys
ENST00000412252.5:c.1057A>T
ENST00000423696.6:c.4144A>T	ENSP00000394536.2:p.Ser1382Cys
ENST00000424924.5:c.3118A>T	ENSP00000402944.1:p.Ser1040Cys
ENST00000449833.6:c.3517A>T	ENSP00000399423.3:p.Ser1173Cys
ENST00000601538.5:c.5281A>T	ENSP00000469689.2:p.Ser1761Cys
ENST00000606715.3:n.2033A>T
NM_012309.4:c.5281A>T	NP_036441.2:p.Ser1761Cys
NM_133266.4:c.3517A>T	NP_573573.2:p.Ser1173Cys
NR_110766.1:n.1135A>T
XM_005277930.2:c.5281A>T	XP_005277987.1:p.Ser1761Cys
XM_005277932.2:c.4144A>T	XP_005277989.1:p.Ser1382Cys
XM_006718478.2:c.5251A>T	XP_006718541.1:p.Ser1751Cys
XM_011544854.1:c.5293A>T	XP_011543156.1:p.Ser1765Cys
XM_011544855.1:c.5272A>T	XP_011543157.1:p.Ser1758Cys
XM_011544856.1:c.5266A>T	XP_011543158.1:p.Ser1756Cys
XM_011544857.1:c.5245A>T	XP_011543159.1:p.Ser1749Cys
XM_011544859.1:c.4156A>T	XP_011543161.1:p.Ser1386Cys
XM_005277932.3:c.4144A>T	XP_005277989.1:p.Ser1382Cys
XM_017017387.1:c.5281A>T	XP_016872876.1:p.Ser1761Cys
XM_017017388.1:c.5281A>T	XP_016872877.1:p.Ser1761Cys
XM_017017389.1:c.5254A>T	XP_016872878.1:p.Ser1752Cys
XM_017017390.1:c.3571A>T	XP_016872879.1:p.Ser1191Cys
NM_133266.5:c.3517A>T	NP_573573.2:p.Ser1173Cys
NR_110766.2:n.1136A>T
NM_001379226.1:c.4144A>T	NP_001366155.1:p.Ser1382Cys
NM_012309.5:c.5281A>T MANE Select	NP_036441.2:p.Ser1761Cys