Canonical Allele Identifier: CA2598832514

Gene: SHANK2

Linked Data

• dbSNP Id: rs997556616
• gnomAD v3: 11-71083369-C-T
• gnomAD v4: 11-71083369-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71083369C>T , CM000673.2:g.71083369C>T	GRCh38
NG_042866.1:g.146428G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000601538.6:c.913-8094G>A MANE Select	ENSP00000469689.2:n.913-8094G>A
ENST00000458632.2:c.321-8094G>A
ENST00000601538.5:c.913-8094G>A	ENSP00000469689.2:n.913-8094G>A
ENST00000608988.5:c.*476-8094G>A	ENSP00000476264.2:n.*476-8094G>A
ENST00000618363.4:c.57-8094G>A
NM_012309.4:c.913-8094G>A	NP_036441.2:n.913-8094G>A
XM_005277930.2:c.913-8094G>A	XP_005277987.1:n.913-8094G>A
XM_006718478.2:c.913-8094G>A	XP_006718541.1:n.913-8094G>A
XM_011544854.1:c.913-8094G>A	XP_011543156.1:n.913-8094G>A
XM_011544855.1:c.913-8094G>A	XP_011543157.1:n.913-8094G>A
XM_011544856.1:c.913-8094G>A	XP_011543158.1:n.913-8094G>A
XM_011544857.1:c.913-8094G>A	XP_011543159.1:n.913-8094G>A
XM_011544858.1:c.913-8094G>A	XP_011543160.1:n.913-8094G>A
XM_017017387.1:c.913-8094G>A	XP_016872876.1:n.913-8094G>A
XM_017017388.1:c.913-8094G>A	XP_016872877.1:n.913-8094G>A
XM_017017389.1:c.913-8094G>A	XP_016872878.1:n.913-8094G>A
NM_012309.5:c.913-8094G>A MANE Select	NP_036441.2:n.913-8094G>A