Canonical Allele Identifier: CA381675825

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473147-C-G
• MyVariant Identifiers: chr11:g.70319252C>G (hg19) ; chr11:g.70473147C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473147C>G , CM000673.2:g.70473147C>G	GRCh38
NC_000011.9:g.70319252C>G , CM000673.1:g.70319252C>G	GRCh37
NC_000011.8:g.69996900C>G	NCBI36
NG_042866.1:g.656650G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3505G>C	ENSP00000345193.7:p.Ala1169Pro
ENST00000412252.6:c.1050G>C	ENSP00000414876.2:n.1050G>C
ENST00000601538.6:c.5272G>C MANE Select	ENSP00000469689.2:p.Ala1758Pro
ENST00000654939.1:c.2781G>C
ENST00000656230.1:c.4135G>C	ENSP00000499561.1:p.Ala1379Pro
ENST00000659264.1:c.3562G>C	ENSP00000499270.1:p.Ala1188Pro
ENST00000338508.8:c.3508G>C	ENSP00000345193.6:p.Ala1170Pro
ENST00000357171.7:c.*276G>C	ENSP00000349694.4:n.*276G>C
ENST00000409161.5:c.3484G>C	ENSP00000386491.1:p.Ala1162Pro
ENST00000412252.5:c.1048G>C
ENST00000423696.6:c.4135G>C	ENSP00000394536.2:p.Ala1379Pro
ENST00000424924.5:c.3109G>C	ENSP00000402944.1:p.Ala1037Pro
ENST00000449833.6:c.3508G>C	ENSP00000399423.3:p.Ala1170Pro
ENST00000601538.5:c.5272G>C	ENSP00000469689.2:p.Ala1758Pro
ENST00000606715.3:n.2024G>C
NM_012309.4:c.5272G>C	NP_036441.2:p.Ala1758Pro
NM_133266.4:c.3508G>C	NP_573573.2:p.Ala1170Pro
NR_110766.1:n.1126G>C
XM_005277930.2:c.5272G>C	XP_005277987.1:p.Ala1758Pro
XM_005277932.2:c.4135G>C	XP_005277989.1:p.Ala1379Pro
XM_006718478.2:c.5242G>C	XP_006718541.1:p.Ala1748Pro
XM_011544854.1:c.5284G>C	XP_011543156.1:p.Ala1762Pro
XM_011544855.1:c.5263G>C	XP_011543157.1:p.Ala1755Pro
XM_011544856.1:c.5257G>C	XP_011543158.1:p.Ala1753Pro
XM_011544857.1:c.5236G>C	XP_011543159.1:p.Ala1746Pro
XM_011544859.1:c.4147G>C	XP_011543161.1:p.Ala1383Pro
XM_005277932.3:c.4135G>C	XP_005277989.1:p.Ala1379Pro
XM_017017387.1:c.5272G>C	XP_016872876.1:p.Ala1758Pro
XM_017017388.1:c.5272G>C	XP_016872877.1:p.Ala1758Pro
XM_017017389.1:c.5245G>C	XP_016872878.1:p.Ala1749Pro
XM_017017390.1:c.3562G>C	XP_016872879.1:p.Ala1188Pro
NM_133266.5:c.3508G>C	NP_573573.2:p.Ala1170Pro
NR_110766.2:n.1127G>C
NM_001379226.1:c.4135G>C	NP_001366155.1:p.Ala1379Pro
NM_012309.5:c.5272G>C MANE Select	NP_036441.2:p.Ala1758Pro