Canonical Allele Identifier: CA214616
Gene: SHANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70486333G>A , CM000673.2:g.70486333G>A GRCh38
NC_000011.9:g.70332438G>A , CM000673.1:g.70332438G>A GRCh37
NC_000011.8:g.70010086G>A NCBI36
NG_042866.1:g.643464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.2193C>T ENSP00000345193.7:p.Asp731=
ENST00000412252.6:c.757+3970C>T ENSP00000414876.2:n.757+3970C>T
ENST00000601538.6:c.3960C>T MANE Select ENSP00000469689.2:p.Asp1320=
ENST00000654939.1:c.1388C>T
ENST00000656230.1:c.2823C>T ENSP00000499561.1:p.Asp941=
ENST00000659264.1:c.2250C>T ENSP00000499270.1:p.Asp750=
ENST00000338508.8:c.2196C>T ENSP00000345193.6:p.Asp732=
ENST00000357171.7:c.718+3970C>T ENSP00000349694.4:n.718+3970C>T
ENST00000409161.5:c.2172C>T ENSP00000386491.1:p.Asp724=
ENST00000412252.5:c.755+3970C>T
ENST00000423696.6:c.2823C>T ENSP00000394536.2:p.Asp941=
ENST00000424924.5:c.1797C>T ENSP00000402944.1:p.Asp599=
ENST00000449833.6:c.2196C>T ENSP00000399423.3:p.Asp732=
ENST00000601538.5:c.3960C>T ENSP00000469689.2:p.Asp1320=
NM_012309.4:c.3960C>T NP_036441.2:p.Asp1320=
NM_133266.4:c.2196C>T NP_573573.2:p.Asp732=
NR_110766.1:n.833+3970C>T
XM_005277930.2:c.3960C>T XP_005277987.1:p.Asp1320=
XM_005277932.2:c.2823C>T XP_005277989.1:p.Asp941=
XM_006718478.2:c.3930C>T XP_006718541.1:p.Asp1310=
XM_011544854.1:c.3972C>T XP_011543156.1:p.Asp1324=
XM_011544855.1:c.3951C>T XP_011543157.1:p.Asp1317=
XM_011544856.1:c.3945C>T XP_011543158.1:p.Asp1315=
XM_011544857.1:c.3924C>T XP_011543159.1:p.Asp1308=
XM_011544858.1:c.3972C>T XP_011543160.1:p.Asp1324=
XM_011544859.1:c.2835C>T XP_011543161.1:p.Asp945=
XM_005277932.3:c.2823C>T XP_005277989.1:p.Asp941=
XM_017017387.1:c.3960C>T XP_016872876.1:p.Asp1320=
XM_017017388.1:c.3960C>T XP_016872877.1:p.Asp1320=
XM_017017389.1:c.3933C>T XP_016872878.1:p.Asp1311=
XM_017017390.1:c.2250C>T XP_016872879.1:p.Asp750=
NM_133266.5:c.2196C>T NP_573573.2:p.Asp732=
NR_110766.2:n.834+3970C>T
NM_001379226.1:c.2823C>T NP_001366155.1:p.Asp941=
NM_012309.5:c.3960C>T MANE Select NP_036441.2:p.Asp1320=