Canonical Allele Identifier: CA2792603939
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70486058_70486059insCCACTAAGCTGGACAAC , CM000673.2:g.70486058_70486059insCCACTAAGCTGGACAAC GRCh38
NC_000011.9:g.70332163_70332164insCCACTAAGCTGGACAAC , CM000673.1:g.70332163_70332164insCCACTAAGCTGGACAAC GRCh37
NC_000011.8:g.70009811_70009812insCCACTAAGCTGGACAAC NCBI36
NG_042866.1:g.643738_643739insGTTGTCCAGCTTAGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.2467_2468insGTTGTCCAGCTTAGTGG ENSP00000345193.7:p.Pro823ArgfsTer5
ENST00000412252.6:c.757+4244_757+4245insGTTGTCCAGCTTAGTGG ENSP00000414876.2:n.757+4244_757+4245insGTTGTCCAGCTTAGTGG
ENST00000601538.6:c.4234_4235insGTTGTCCAGCTTAGTGG MANE Select ENSP00000469689.2:p.Pro1412ArgfsTer5
ENST00000654939.1:c.1662_1663insGTTGTCCAGCTTAGTGG
ENST00000656230.1:c.3097_3098insGTTGTCCAGCTTAGTGG ENSP00000499561.1:p.Pro1033ArgfsTer5
ENST00000659264.1:c.2524_2525insGTTGTCCAGCTTAGTGG ENSP00000499270.1:p.Pro842ArgfsTer5
ENST00000338508.8:c.2470_2471insGTTGTCCAGCTTAGTGG ENSP00000345193.6:p.Pro824ArgfsTer5
ENST00000357171.7:c.718+4244_718+4245insGTTGTCCAGCTTAGTGG ENSP00000349694.4:n.718+4244_718+4245insGTTGTCCAGCTTAGTGG
ENST00000409161.5:c.2446_2447insGTTGTCCAGCTTAGTGG ENSP00000386491.1:p.Pro816ArgfsTer5
ENST00000412252.5:c.755+4244_755+4245insGTTGTCCAGCTTAGTGG
ENST00000423696.6:c.3097_3098insGTTGTCCAGCTTAGTGG ENSP00000394536.2:p.Pro1033ArgfsTer5
ENST00000424924.5:c.2071_2072insGTTGTCCAGCTTAGTGG ENSP00000402944.1:p.Pro691ArgfsTer5
ENST00000449833.6:c.2470_2471insGTTGTCCAGCTTAGTGG ENSP00000399423.3:p.Pro824ArgfsTer5
ENST00000601538.5:c.4234_4235insGTTGTCCAGCTTAGTGG ENSP00000469689.2:p.Pro1412ArgfsTer5
NM_012309.4:c.4234_4235insGTTGTCCAGCTTAGTGG NP_036441.2:p.Pro1412ArgfsTer5
NM_133266.4:c.2470_2471insGTTGTCCAGCTTAGTGG NP_573573.2:p.Pro824ArgfsTer5
NR_110766.1:n.833+4244_833+4245insGTTGTCCAGCTTAGTGG
XM_005277930.2:c.4234_4235insGTTGTCCAGCTTAGTGG XP_005277987.1:p.Pro1412ArgfsTer5
XM_005277932.2:c.3097_3098insGTTGTCCAGCTTAGTGG XP_005277989.1:p.Pro1033ArgfsTer5
XM_006718478.2:c.4204_4205insGTTGTCCAGCTTAGTGG XP_006718541.1:p.Pro1402ArgfsTer5
XM_011544854.1:c.4246_4247insGTTGTCCAGCTTAGTGG XP_011543156.1:p.Pro1416ArgfsTer5
XM_011544855.1:c.4225_4226insGTTGTCCAGCTTAGTGG XP_011543157.1:p.Pro1409ArgfsTer5
XM_011544856.1:c.4219_4220insGTTGTCCAGCTTAGTGG XP_011543158.1:p.Pro1407ArgfsTer5
XM_011544857.1:c.4198_4199insGTTGTCCAGCTTAGTGG XP_011543159.1:p.Pro1400ArgfsTer5
XM_011544858.1:c.4246_4247insGTTGTCCAGCTTAGTGG XP_011543160.1:p.Pro1416ArgfsTer5
XM_011544859.1:c.3109_3110insGTTGTCCAGCTTAGTGG XP_011543161.1:p.Pro1037ArgfsTer5
XM_005277932.3:c.3097_3098insGTTGTCCAGCTTAGTGG XP_005277989.1:p.Pro1033ArgfsTer5
XM_017017387.1:c.4234_4235insGTTGTCCAGCTTAGTGG XP_016872876.1:p.Pro1412ArgfsTer5
XM_017017388.1:c.4234_4235insGTTGTCCAGCTTAGTGG XP_016872877.1:p.Pro1412ArgfsTer5
XM_017017389.1:c.4207_4208insGTTGTCCAGCTTAGTGG XP_016872878.1:p.Pro1403ArgfsTer5
XM_017017390.1:c.2524_2525insGTTGTCCAGCTTAGTGG XP_016872879.1:p.Pro842ArgfsTer5
NM_133266.5:c.2470_2471insGTTGTCCAGCTTAGTGG NP_573573.2:p.Pro824ArgfsTer5
NR_110766.2:n.834+4244_834+4245insGTTGTCCAGCTTAGTGG
NM_001379226.1:c.3097_3098insGTTGTCCAGCTTAGTGG NP_001366155.1:p.Pro1033ArgfsTer5
NM_012309.5:c.4234_4235insGTTGTCCAGCTTAGTGG MANE Select NP_036441.2:p.Pro1412ArgfsTer5