Canonical Allele Identifier: CA381675801

Gene: SHANK2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3514A>G	ENSP00000345193.7:p.Ser1172Gly
ENST00000412252.6:c.1059A>G	ENSP00000414876.2:n.1059A>G
ENST00000601538.6:c.5281A>G MANE Select	ENSP00000469689.2:p.Ser1761Gly
ENST00000654939.1:c.2790A>G
ENST00000656230.1:c.4144A>G	ENSP00000499561.1:p.Ser1382Gly
ENST00000659264.1:c.3571A>G	ENSP00000499270.1:p.Ser1191Gly
ENST00000338508.8:c.3517A>G	ENSP00000345193.6:p.Ser1173Gly
ENST00000357171.7:c.*285A>G	ENSP00000349694.4:n.*285A>G
ENST00000409161.5:c.3493A>G	ENSP00000386491.1:p.Ser1165Gly
ENST00000412252.5:c.1057A>G
ENST00000423696.6:c.4144A>G	ENSP00000394536.2:p.Ser1382Gly
ENST00000424924.5:c.3118A>G	ENSP00000402944.1:p.Ser1040Gly
ENST00000449833.6:c.3517A>G	ENSP00000399423.3:p.Ser1173Gly
ENST00000601538.5:c.5281A>G	ENSP00000469689.2:p.Ser1761Gly
ENST00000606715.3:n.2033A>G
NM_012309.4:c.5281A>G	NP_036441.2:p.Ser1761Gly
NM_133266.4:c.3517A>G	NP_573573.2:p.Ser1173Gly
NR_110766.1:n.1135A>G
XM_005277930.2:c.5281A>G	XP_005277987.1:p.Ser1761Gly
XM_005277932.2:c.4144A>G	XP_005277989.1:p.Ser1382Gly
XM_006718478.2:c.5251A>G	XP_006718541.1:p.Ser1751Gly
XM_011544854.1:c.5293A>G	XP_011543156.1:p.Ser1765Gly
XM_011544855.1:c.5272A>G	XP_011543157.1:p.Ser1758Gly
XM_011544856.1:c.5266A>G	XP_011543158.1:p.Ser1756Gly
XM_011544857.1:c.5245A>G	XP_011543159.1:p.Ser1749Gly
XM_011544859.1:c.4156A>G	XP_011543161.1:p.Ser1386Gly
XM_005277932.3:c.4144A>G	XP_005277989.1:p.Ser1382Gly
XM_017017387.1:c.5281A>G	XP_016872876.1:p.Ser1761Gly
XM_017017388.1:c.5281A>G	XP_016872877.1:p.Ser1761Gly
XM_017017389.1:c.5254A>G	XP_016872878.1:p.Ser1752Gly
XM_017017390.1:c.3571A>G	XP_016872879.1:p.Ser1191Gly
NM_133266.5:c.3517A>G	NP_573573.2:p.Ser1173Gly
NR_110766.2:n.1136A>G
NM_001379226.1:c.4144A>G	NP_001366155.1:p.Ser1382Gly
NM_012309.5:c.5281A>G MANE Select	NP_036441.2:p.Ser1761Gly