Canonical Allele Identifier: CA381676923

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319540G>T (hg19) ; chr11:g.70473435G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473435G>T , CM000673.2:g.70473435G>T	GRCh38
NC_000011.9:g.70319540G>T , CM000673.1:g.70319540G>T	GRCh37
NC_000011.8:g.69997188G>T	NCBI36
NG_042866.1:g.656362C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3217C>A	ENSP00000345193.7:p.Pro1073Thr
ENST00000412252.6:c.762C>A	ENSP00000414876.2:p.Ala254=
ENST00000601538.6:c.4984C>A MANE Select	ENSP00000469689.2:p.Pro1662Thr
ENST00000654939.1:c.2493C>A
ENST00000656230.1:c.3847C>A	ENSP00000499561.1:p.Pro1283Thr
ENST00000659264.1:c.3274C>A	ENSP00000499270.1:p.Pro1092Thr
ENST00000338508.8:c.3220C>A	ENSP00000345193.6:p.Pro1074Thr
ENST00000357171.7:c.723C>A	ENSP00000349694.4:p.Ala241=
ENST00000409161.5:c.3196C>A	ENSP00000386491.1:p.Pro1066Thr
ENST00000412252.5:c.760C>A
ENST00000423696.6:c.3847C>A	ENSP00000394536.2:p.Pro1283Thr
ENST00000424924.5:c.2821C>A	ENSP00000402944.1:p.Pro941Thr
ENST00000449833.6:c.3220C>A	ENSP00000399423.3:p.Pro1074Thr
ENST00000601538.5:c.4984C>A	ENSP00000469689.2:p.Pro1662Thr
ENST00000606715.3:n.1736C>A
NM_012309.4:c.4984C>A	NP_036441.2:p.Pro1662Thr
NM_133266.4:c.3220C>A	NP_573573.2:p.Pro1074Thr
NR_110766.1:n.838C>A
XM_005277930.2:c.4984C>A	XP_005277987.1:p.Pro1662Thr
XM_005277932.2:c.3847C>A	XP_005277989.1:p.Pro1283Thr
XM_006718478.2:c.4954C>A	XP_006718541.1:p.Pro1652Thr
XM_011544854.1:c.4996C>A	XP_011543156.1:p.Pro1666Thr
XM_011544855.1:c.4975C>A	XP_011543157.1:p.Pro1659Thr
XM_011544856.1:c.4969C>A	XP_011543158.1:p.Pro1657Thr
XM_011544857.1:c.4948C>A	XP_011543159.1:p.Pro1650Thr
XM_011544859.1:c.3859C>A	XP_011543161.1:p.Pro1287Thr
XM_005277932.3:c.3847C>A	XP_005277989.1:p.Pro1283Thr
XM_017017387.1:c.4984C>A	XP_016872876.1:p.Pro1662Thr
XM_017017388.1:c.4984C>A	XP_016872877.1:p.Pro1662Thr
XM_017017389.1:c.4957C>A	XP_016872878.1:p.Pro1653Thr
XM_017017390.1:c.3274C>A	XP_016872879.1:p.Pro1092Thr
NM_133266.5:c.3220C>A	NP_573573.2:p.Pro1074Thr
NR_110766.2:n.839C>A
NM_001379226.1:c.3847C>A	NP_001366155.1:p.Pro1283Thr
NM_012309.5:c.4984C>A MANE Select	NP_036441.2:p.Pro1662Thr