Canonical Allele Identifier: CA6160719

Gene: SHANK2

Linked Data

• dbSNP Id: rs782567869
• ExAC: 11:70319210 G / A
• gnomAD v2: 11-70319210-G-A
• gnomAD v4: 11-70473105-G-A
• MyVariant Identifiers: chr11:g.70319210G>A (hg19) ; chr11:g.70473105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473105G>A , CM000673.2:g.70473105G>A	GRCh38
NC_000011.9:g.70319210G>A , CM000673.1:g.70319210G>A	GRCh37
NC_000011.8:g.69996858G>A	NCBI36
NG_042866.1:g.656692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3547C>T	ENSP00000345193.7:p.Pro1183Ser
ENST00000412252.6:c.1092C>T	ENSP00000414876.2:n.1092C>T
ENST00000601538.6:c.5314C>T MANE Select	ENSP00000469689.2:p.Pro1772Ser
ENST00000654939.1:c.2823C>T
ENST00000656230.1:c.4177C>T	ENSP00000499561.1:p.Pro1393Ser
ENST00000659264.1:c.3604C>T	ENSP00000499270.1:p.Pro1202Ser
ENST00000338508.8:c.3550C>T	ENSP00000345193.6:p.Pro1184Ser
ENST00000357171.7:c.*318C>T	ENSP00000349694.4:n.*318C>T
ENST00000409161.5:c.3526C>T	ENSP00000386491.1:p.Pro1176Ser
ENST00000412252.5:c.1090C>T
ENST00000423696.6:c.4177C>T	ENSP00000394536.2:p.Pro1393Ser
ENST00000424924.5:c.3151C>T	ENSP00000402944.1:p.Pro1051Ser
ENST00000449833.6:c.3550C>T	ENSP00000399423.3:p.Pro1184Ser
ENST00000601538.5:c.5314C>T	ENSP00000469689.2:p.Pro1772Ser
ENST00000606715.3:n.2066C>T
NM_012309.4:c.5314C>T	NP_036441.2:p.Pro1772Ser
NM_133266.4:c.3550C>T	NP_573573.2:p.Pro1184Ser
NR_110766.1:n.1168C>T
XM_005277930.2:c.5314C>T	XP_005277987.1:p.Pro1772Ser
XM_005277932.2:c.4177C>T	XP_005277989.1:p.Pro1393Ser
XM_006718478.2:c.5284C>T	XP_006718541.1:p.Pro1762Ser
XM_011544854.1:c.5326C>T	XP_011543156.1:p.Pro1776Ser
XM_011544855.1:c.5305C>T	XP_011543157.1:p.Pro1769Ser
XM_011544856.1:c.5299C>T	XP_011543158.1:p.Pro1767Ser
XM_011544857.1:c.5278C>T	XP_011543159.1:p.Pro1760Ser
XM_011544859.1:c.4189C>T	XP_011543161.1:p.Pro1397Ser
XM_005277932.3:c.4177C>T	XP_005277989.1:p.Pro1393Ser
XM_017017387.1:c.5314C>T	XP_016872876.1:p.Pro1772Ser
XM_017017388.1:c.5314C>T	XP_016872877.1:p.Pro1772Ser
XM_017017389.1:c.5287C>T	XP_016872878.1:p.Pro1763Ser
XM_017017390.1:c.3604C>T	XP_016872879.1:p.Pro1202Ser
NM_133266.5:c.3550C>T	NP_573573.2:p.Pro1184Ser
NR_110766.2:n.1169C>T
NM_001379226.1:c.4177C>T	NP_001366155.1:p.Pro1393Ser
NM_012309.5:c.5314C>T MANE Select	NP_036441.2:p.Pro1772Ser