Canonical Allele Identifier: CA381676529

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319471A>C (hg19) ; chr11:g.70473366A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473366A>C , CM000673.2:g.70473366A>C	GRCh38
NC_000011.9:g.70319471A>C , CM000673.1:g.70319471A>C	GRCh37
NC_000011.8:g.69997119A>C	NCBI36
NG_042866.1:g.656431T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3286T>G	ENSP00000345193.7:p.Ser1096Ala
ENST00000412252.6:c.831T>G	ENSP00000414876.2:n.831T>G
ENST00000601538.6:c.5053T>G MANE Select	ENSP00000469689.2:p.Ser1685Ala
ENST00000654939.1:c.2562T>G
ENST00000656230.1:c.3916T>G	ENSP00000499561.1:p.Ser1306Ala
ENST00000659264.1:c.3343T>G	ENSP00000499270.1:p.Ser1115Ala
ENST00000338508.8:c.3289T>G	ENSP00000345193.6:p.Ser1097Ala
ENST00000357171.7:c.*57T>G	ENSP00000349694.4:n.*57T>G
ENST00000409161.5:c.3265T>G	ENSP00000386491.1:p.Ser1089Ala
ENST00000412252.5:c.829T>G
ENST00000423696.6:c.3916T>G	ENSP00000394536.2:p.Ser1306Ala
ENST00000424924.5:c.2890T>G	ENSP00000402944.1:p.Ser964Ala
ENST00000449833.6:c.3289T>G	ENSP00000399423.3:p.Ser1097Ala
ENST00000601538.5:c.5053T>G	ENSP00000469689.2:p.Ser1685Ala
ENST00000606715.3:n.1805T>G
NM_012309.4:c.5053T>G	NP_036441.2:p.Ser1685Ala
NM_133266.4:c.3289T>G	NP_573573.2:p.Ser1097Ala
NR_110766.1:n.907T>G
XM_005277930.2:c.5053T>G	XP_005277987.1:p.Ser1685Ala
XM_005277932.2:c.3916T>G	XP_005277989.1:p.Ser1306Ala
XM_006718478.2:c.5023T>G	XP_006718541.1:p.Ser1675Ala
XM_011544854.1:c.5065T>G	XP_011543156.1:p.Ser1689Ala
XM_011544855.1:c.5044T>G	XP_011543157.1:p.Ser1682Ala
XM_011544856.1:c.5038T>G	XP_011543158.1:p.Ser1680Ala
XM_011544857.1:c.5017T>G	XP_011543159.1:p.Ser1673Ala
XM_011544859.1:c.3928T>G	XP_011543161.1:p.Ser1310Ala
XM_005277932.3:c.3916T>G	XP_005277989.1:p.Ser1306Ala
XM_017017387.1:c.5053T>G	XP_016872876.1:p.Ser1685Ala
XM_017017388.1:c.5053T>G	XP_016872877.1:p.Ser1685Ala
XM_017017389.1:c.5026T>G	XP_016872878.1:p.Ser1676Ala
XM_017017390.1:c.3343T>G	XP_016872879.1:p.Ser1115Ala
NM_133266.5:c.3289T>G	NP_573573.2:p.Ser1097Ala
NR_110766.2:n.908T>G
NM_001379226.1:c.3916T>G	NP_001366155.1:p.Ser1306Ala
NM_012309.5:c.5053T>G MANE Select	NP_036441.2:p.Ser1685Ala