Canonical Allele Identifier: CA381676844

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473421-G-T
• MyVariant Identifiers: chr11:g.70319526G>T (hg19) ; chr11:g.70473421G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473421G>T , CM000673.2:g.70473421G>T	GRCh38
NC_000011.9:g.70319526G>T , CM000673.1:g.70319526G>T	GRCh37
NC_000011.8:g.69997174G>T	NCBI36
NG_042866.1:g.656376C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3231C>A	ENSP00000345193.7:p.Ser1077Arg
ENST00000412252.6:c.776C>A	ENSP00000414876.2:n.776C>A
ENST00000601538.6:c.4998C>A MANE Select	ENSP00000469689.2:p.Ser1666Arg
ENST00000654939.1:c.2507C>A
ENST00000656230.1:c.3861C>A	ENSP00000499561.1:p.Ser1287Arg
ENST00000659264.1:c.3288C>A	ENSP00000499270.1:p.Ser1096Arg
ENST00000338508.8:c.3234C>A	ENSP00000345193.6:p.Ser1078Arg
ENST00000357171.7:c.*2C>A	ENSP00000349694.4:n.*2C>A
ENST00000409161.5:c.3210C>A	ENSP00000386491.1:p.Ser1070Arg
ENST00000412252.5:c.774C>A
ENST00000423696.6:c.3861C>A	ENSP00000394536.2:p.Ser1287Arg
ENST00000424924.5:c.2835C>A	ENSP00000402944.1:p.Ser945Arg
ENST00000449833.6:c.3234C>A	ENSP00000399423.3:p.Ser1078Arg
ENST00000601538.5:c.4998C>A	ENSP00000469689.2:p.Ser1666Arg
ENST00000606715.3:n.1750C>A
NM_012309.4:c.4998C>A	NP_036441.2:p.Ser1666Arg
NM_133266.4:c.3234C>A	NP_573573.2:p.Ser1078Arg
NR_110766.1:n.852C>A
XM_005277930.2:c.4998C>A	XP_005277987.1:p.Ser1666Arg
XM_005277932.2:c.3861C>A	XP_005277989.1:p.Ser1287Arg
XM_006718478.2:c.4968C>A	XP_006718541.1:p.Ser1656Arg
XM_011544854.1:c.5010C>A	XP_011543156.1:p.Ser1670Arg
XM_011544855.1:c.4989C>A	XP_011543157.1:p.Ser1663Arg
XM_011544856.1:c.4983C>A	XP_011543158.1:p.Ser1661Arg
XM_011544857.1:c.4962C>A	XP_011543159.1:p.Ser1654Arg
XM_011544859.1:c.3873C>A	XP_011543161.1:p.Ser1291Arg
XM_005277932.3:c.3861C>A	XP_005277989.1:p.Ser1287Arg
XM_017017387.1:c.4998C>A	XP_016872876.1:p.Ser1666Arg
XM_017017388.1:c.4998C>A	XP_016872877.1:p.Ser1666Arg
XM_017017389.1:c.4971C>A	XP_016872878.1:p.Ser1657Arg
XM_017017390.1:c.3288C>A	XP_016872879.1:p.Ser1096Arg
NM_133266.5:c.3234C>A	NP_573573.2:p.Ser1078Arg
NR_110766.2:n.853C>A
NM_001379226.1:c.3861C>A	NP_001366155.1:p.Ser1287Arg
NM_012309.5:c.4998C>A MANE Select	NP_036441.2:p.Ser1666Arg