Canonical Allele Identifier: CA6161862

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70820660C>T , CM000673.2:g.70820660C>T	GRCh38
NC_000011.9:g.70666765C>T , CM000673.1:g.70666765C>T	GRCh37
NC_000011.8:g.70344413C>T	NCBI36
NG_042866.1:g.309137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468619.6:c.60G>A	ENSP00000483920.2:p.Ala20=
ENST00000601538.6:c.1197G>A MANE Select	ENSP00000469689.2:p.Ala399=
ENST00000645599.1:c.261G>A	ENSP00000493501.1:p.Ala87=
ENST00000656230.1:c.60G>A	ENSP00000499561.1:p.Ala20=
ENST00000423696.6:c.60G>A	ENSP00000394536.2:p.Ala20=
ENST00000425049.1:c.138G>A
ENST00000460048.1:n.156G>A
ENST00000468619.5:c.314G>A
ENST00000601538.5:c.1197G>A	ENSP00000469689.2:p.Ala399=
NM_012309.4:c.1197G>A	NP_036441.2:p.Ala399=
XM_005277930.2:c.1197G>A	XP_005277987.1:p.Ala399=
XM_005277932.2:c.60G>A	XP_005277989.1:p.Ala20=
XM_006718478.2:c.1197G>A	XP_006718541.1:p.Ala399=
XM_011544854.1:c.1197G>A	XP_011543156.1:p.Ala399=
XM_011544855.1:c.1197G>A	XP_011543157.1:p.Ala399=
XM_011544856.1:c.1197G>A	XP_011543158.1:p.Ala399=
XM_011544857.1:c.1197G>A	XP_011543159.1:p.Ala399=
XM_011544858.1:c.1197G>A	XP_011543160.1:p.Ala399=
XM_011544859.1:c.60G>A	XP_011543161.1:p.Ala20=
XM_005277932.3:c.60G>A	XP_005277989.1:p.Ala20=
XM_017017387.1:c.1197G>A	XP_016872876.1:p.Ala399=
XM_017017388.1:c.1197G>A	XP_016872877.1:p.Ala399=
XM_017017389.1:c.1197G>A	XP_016872878.1:p.Ala399=
NM_001379226.1:c.60G>A	NP_001366155.1:p.Ala20=
NM_012309.5:c.1197G>A MANE Select	NP_036441.2:p.Ala399=