Canonical Allele Identifier: CA6161141
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70486942G>C , CM000673.2:g.70486942G>C GRCh38
NC_000011.9:g.70333047G>C , CM000673.1:g.70333047G>C GRCh37
NC_000011.8:g.70010695G>C NCBI36
NG_042866.1:g.642855C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.1584C>G ENSP00000345193.7:p.Pro528=
ENST00000412252.6:c.757+3361C>G ENSP00000414876.2:n.757+3361C>G
ENST00000601538.6:c.3351C>G MANE Select ENSP00000469689.2:p.Pro1117=
ENST00000654939.1:c.779C>G
ENST00000656230.1:c.2214C>G ENSP00000499561.1:p.Pro738=
ENST00000659264.1:c.1641C>G ENSP00000499270.1:p.Pro547=
ENST00000338508.8:c.1587C>G ENSP00000345193.6:p.Pro529=
ENST00000357171.7:c.718+3361C>G ENSP00000349694.4:n.718+3361C>G
ENST00000409161.5:c.1563C>G ENSP00000386491.1:p.Pro521=
ENST00000412252.5:c.755+3361C>G
ENST00000423696.6:c.2214C>G ENSP00000394536.2:p.Pro738=
ENST00000424924.5:c.1188C>G ENSP00000402944.1:p.Pro396=
ENST00000449833.6:c.1587C>G ENSP00000399423.3:p.Pro529=
ENST00000601538.5:c.3351C>G ENSP00000469689.2:p.Pro1117=
NM_012309.4:c.3351C>G NP_036441.2:p.Pro1117=
NM_133266.4:c.1587C>G NP_573573.2:p.Pro529=
NR_110766.1:n.833+3361C>G
XM_005277930.2:c.3351C>G XP_005277987.1:p.Pro1117=
XM_005277932.2:c.2214C>G XP_005277989.1:p.Pro738=
XM_006718478.2:c.3321C>G XP_006718541.1:p.Pro1107=
XM_011544854.1:c.3363C>G XP_011543156.1:p.Pro1121=
XM_011544855.1:c.3342C>G XP_011543157.1:p.Pro1114=
XM_011544856.1:c.3336C>G XP_011543158.1:p.Pro1112=
XM_011544857.1:c.3315C>G XP_011543159.1:p.Pro1105=
XM_011544858.1:c.3363C>G XP_011543160.1:p.Pro1121=
XM_011544859.1:c.2226C>G XP_011543161.1:p.Pro742=
XM_005277932.3:c.2214C>G XP_005277989.1:p.Pro738=
XM_017017387.1:c.3351C>G XP_016872876.1:p.Pro1117=
XM_017017388.1:c.3351C>G XP_016872877.1:p.Pro1117=
XM_017017389.1:c.3324C>G XP_016872878.1:p.Pro1108=
XM_017017390.1:c.1641C>G XP_016872879.1:p.Pro547=
NM_133266.5:c.1587C>G NP_573573.2:p.Pro529=
NR_110766.2:n.834+3361C>G
NM_001379226.1:c.2214C>G NP_001366155.1:p.Pro738=
NM_012309.5:c.3351C>G MANE Select NP_036441.2:p.Pro1117=