Canonical Allele Identifier: CA381675831

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473149-G-C
• COSMIC: COSM4489636 ; COSM4489637 ; COSM4489638
• MyVariant Identifiers: chr11:g.70319254G>C (hg19) ; chr11:g.70473149G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473149G>C , CM000673.2:g.70473149G>C	GRCh38
NC_000011.9:g.70319254G>C , CM000673.1:g.70319254G>C	GRCh37
NC_000011.8:g.69996902G>C	NCBI36
NG_042866.1:g.656648C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3503C>G	ENSP00000345193.7:p.Pro1168Arg
ENST00000412252.6:c.1048C>G	ENSP00000414876.2:n.1048C>G
ENST00000601538.6:c.5270C>G MANE Select	ENSP00000469689.2:p.Pro1757Arg
ENST00000654939.1:c.2779C>G
ENST00000656230.1:c.4133C>G	ENSP00000499561.1:p.Pro1378Arg
ENST00000659264.1:c.3560C>G	ENSP00000499270.1:p.Pro1187Arg
ENST00000338508.8:c.3506C>G	ENSP00000345193.6:p.Pro1169Arg
ENST00000357171.7:c.*274C>G	ENSP00000349694.4:n.*274C>G
ENST00000409161.5:c.3482C>G	ENSP00000386491.1:p.Pro1161Arg
ENST00000412252.5:c.1046C>G
ENST00000423696.6:c.4133C>G	ENSP00000394536.2:p.Pro1378Arg
ENST00000424924.5:c.3107C>G	ENSP00000402944.1:p.Pro1036Arg
ENST00000449833.6:c.3506C>G	ENSP00000399423.3:p.Pro1169Arg
ENST00000601538.5:c.5270C>G	ENSP00000469689.2:p.Pro1757Arg
ENST00000606715.3:n.2022C>G
NM_012309.4:c.5270C>G	NP_036441.2:p.Pro1757Arg
NM_133266.4:c.3506C>G	NP_573573.2:p.Pro1169Arg
NR_110766.1:n.1124C>G
XM_005277930.2:c.5270C>G	XP_005277987.1:p.Pro1757Arg
XM_005277932.2:c.4133C>G	XP_005277989.1:p.Pro1378Arg
XM_006718478.2:c.5240C>G	XP_006718541.1:p.Pro1747Arg
XM_011544854.1:c.5282C>G	XP_011543156.1:p.Pro1761Arg
XM_011544855.1:c.5261C>G	XP_011543157.1:p.Pro1754Arg
XM_011544856.1:c.5255C>G	XP_011543158.1:p.Pro1752Arg
XM_011544857.1:c.5234C>G	XP_011543159.1:p.Pro1745Arg
XM_011544859.1:c.4145C>G	XP_011543161.1:p.Pro1382Arg
XM_005277932.3:c.4133C>G	XP_005277989.1:p.Pro1378Arg
XM_017017387.1:c.5270C>G	XP_016872876.1:p.Pro1757Arg
XM_017017388.1:c.5270C>G	XP_016872877.1:p.Pro1757Arg
XM_017017389.1:c.5243C>G	XP_016872878.1:p.Pro1748Arg
XM_017017390.1:c.3560C>G	XP_016872879.1:p.Pro1187Arg
NM_133266.5:c.3506C>G	NP_573573.2:p.Pro1169Arg
NR_110766.2:n.1125C>G
NM_001379226.1:c.4133C>G	NP_001366155.1:p.Pro1378Arg
NM_012309.5:c.5270C>G MANE Select	NP_036441.2:p.Pro1757Arg