Canonical Allele Identifier: CA6160761
Gene: SHANK2 HGNC NCBI

Linked Data

dbSNP Id: rs782222558

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473271C>A , CM000673.2:g.70473271C>A GRCh38
NC_000011.9:g.70319376C>A , CM000673.1:g.70319376C>A GRCh37
NC_000011.8:g.69997024C>A NCBI36
NG_042866.1:g.656526G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3381G>T ENSP00000345193.7:p.Glu1127Asp
ENST00000412252.6:c.926G>T ENSP00000414876.2:n.926G>T
ENST00000601538.6:c.5148G>T MANE Select ENSP00000469689.2:p.Glu1716Asp
ENST00000654939.1:c.2657G>T
ENST00000656230.1:c.4011G>T ENSP00000499561.1:p.Glu1337Asp
ENST00000659264.1:c.3438G>T ENSP00000499270.1:p.Glu1146Asp
ENST00000338508.8:c.3384G>T ENSP00000345193.6:p.Glu1128Asp
ENST00000357171.7:c.*152G>T ENSP00000349694.4:n.*152G>T
ENST00000409161.5:c.3360G>T ENSP00000386491.1:p.Glu1120Asp
ENST00000412252.5:c.924G>T
ENST00000423696.6:c.4011G>T ENSP00000394536.2:p.Glu1337Asp
ENST00000424924.5:c.2985G>T ENSP00000402944.1:p.Glu995Asp
ENST00000449833.6:c.3384G>T ENSP00000399423.3:p.Glu1128Asp
ENST00000601538.5:c.5148G>T ENSP00000469689.2:p.Glu1716Asp
ENST00000606715.3:n.1900G>T
NM_012309.4:c.5148G>T NP_036441.2:p.Glu1716Asp
NM_133266.4:c.3384G>T NP_573573.2:p.Glu1128Asp
NR_110766.1:n.1002G>T
XM_005277930.2:c.5148G>T XP_005277987.1:p.Glu1716Asp
XM_005277932.2:c.4011G>T XP_005277989.1:p.Glu1337Asp
XM_006718478.2:c.5118G>T XP_006718541.1:p.Glu1706Asp
XM_011544854.1:c.5160G>T XP_011543156.1:p.Glu1720Asp
XM_011544855.1:c.5139G>T XP_011543157.1:p.Glu1713Asp
XM_011544856.1:c.5133G>T XP_011543158.1:p.Glu1711Asp
XM_011544857.1:c.5112G>T XP_011543159.1:p.Glu1704Asp
XM_011544859.1:c.4023G>T XP_011543161.1:p.Glu1341Asp
XM_005277932.3:c.4011G>T XP_005277989.1:p.Glu1337Asp
XM_017017387.1:c.5148G>T XP_016872876.1:p.Glu1716Asp
XM_017017388.1:c.5148G>T XP_016872877.1:p.Glu1716Asp
XM_017017389.1:c.5121G>T XP_016872878.1:p.Glu1707Asp
XM_017017390.1:c.3438G>T XP_016872879.1:p.Glu1146Asp
NM_133266.5:c.3384G>T NP_573573.2:p.Glu1128Asp
NR_110766.2:n.1003G>T
NM_001379226.1:c.4011G>T NP_001366155.1:p.Glu1337Asp
NM_012309.5:c.5148G>T MANE Select NP_036441.2:p.Glu1716Asp