Canonical Allele Identifier: CA475470621
Gene: SHANK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.70319319G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473214G>T , CM000673.2:g.70473214G>T GRCh38
NC_000011.9:g.70319319G>T , CM000673.1:g.70319319G>T GRCh37
NC_000011.8:g.69996967G>T NCBI36
NG_042866.1:g.656583C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3438C>A ENSP00000345193.7:p.Pro1146=
ENST00000412252.6:c.983C>A ENSP00000414876.2:n.983C>A
ENST00000601538.6:c.5205C>A MANE Select ENSP00000469689.2:p.Pro1735=
ENST00000654939.1:c.2714C>A
ENST00000656230.1:c.4068C>A ENSP00000499561.1:p.Pro1356=
ENST00000659264.1:c.3495C>A ENSP00000499270.1:p.Pro1165=
ENST00000338508.8:c.3441C>A ENSP00000345193.6:p.Pro1147=
ENST00000357171.7:c.*209C>A ENSP00000349694.4:n.*209C>A
ENST00000409161.5:c.3417C>A ENSP00000386491.1:p.Pro1139=
ENST00000412252.5:c.981C>A
ENST00000423696.6:c.4068C>A ENSP00000394536.2:p.Pro1356=
ENST00000424924.5:c.3042C>A ENSP00000402944.1:p.Pro1014=
ENST00000449833.6:c.3441C>A ENSP00000399423.3:p.Pro1147=
ENST00000601538.5:c.5205C>A ENSP00000469689.2:p.Pro1735=
ENST00000606715.3:n.1957C>A
NM_012309.4:c.5205C>A NP_036441.2:p.Pro1735=
NM_133266.4:c.3441C>A NP_573573.2:p.Pro1147=
NR_110766.1:n.1059C>A
XM_005277930.2:c.5205C>A XP_005277987.1:p.Pro1735=
XM_005277932.2:c.4068C>A XP_005277989.1:p.Pro1356=
XM_006718478.2:c.5175C>A XP_006718541.1:p.Pro1725=
XM_011544854.1:c.5217C>A XP_011543156.1:p.Pro1739=
XM_011544855.1:c.5196C>A XP_011543157.1:p.Pro1732=
XM_011544856.1:c.5190C>A XP_011543158.1:p.Pro1730=
XM_011544857.1:c.5169C>A XP_011543159.1:p.Pro1723=
XM_011544859.1:c.4080C>A XP_011543161.1:p.Pro1360=
XM_005277932.3:c.4068C>A XP_005277989.1:p.Pro1356=
XM_017017387.1:c.5205C>A XP_016872876.1:p.Pro1735=
XM_017017388.1:c.5205C>A XP_016872877.1:p.Pro1735=
XM_017017389.1:c.5178C>A XP_016872878.1:p.Pro1726=
XM_017017390.1:c.3495C>A XP_016872879.1:p.Pro1165=
NM_133266.5:c.3441C>A NP_573573.2:p.Pro1147=
NR_110766.2:n.1060C>A
NM_001379226.1:c.4068C>A NP_001366155.1:p.Pro1356=
NM_012309.5:c.5205C>A MANE Select NP_036441.2:p.Pro1735=