Canonical Allele Identifier: CA475470816
Gene: SHANK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.70319496G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473391G>C , CM000673.2:g.70473391G>C GRCh38
NC_000011.9:g.70319496G>C , CM000673.1:g.70319496G>C GRCh37
NC_000011.8:g.69997144G>C NCBI36
NG_042866.1:g.656406C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3261C>G ENSP00000345193.7:p.Val1087=
ENST00000412252.6:c.806C>G ENSP00000414876.2:n.806C>G
ENST00000601538.6:c.5028C>G MANE Select ENSP00000469689.2:p.Val1676=
ENST00000654939.1:c.2537C>G
ENST00000656230.1:c.3891C>G ENSP00000499561.1:p.Val1297=
ENST00000659264.1:c.3318C>G ENSP00000499270.1:p.Val1106=
ENST00000338508.8:c.3264C>G ENSP00000345193.6:p.Val1088=
ENST00000357171.7:c.*32C>G ENSP00000349694.4:n.*32C>G
ENST00000409161.5:c.3240C>G ENSP00000386491.1:p.Val1080=
ENST00000412252.5:c.804C>G
ENST00000423696.6:c.3891C>G ENSP00000394536.2:p.Val1297=
ENST00000424924.5:c.2865C>G ENSP00000402944.1:p.Val955=
ENST00000449833.6:c.3264C>G ENSP00000399423.3:p.Val1088=
ENST00000601538.5:c.5028C>G ENSP00000469689.2:p.Val1676=
ENST00000606715.3:n.1780C>G
NM_012309.4:c.5028C>G NP_036441.2:p.Val1676=
NM_133266.4:c.3264C>G NP_573573.2:p.Val1088=
NR_110766.1:n.882C>G
XM_005277930.2:c.5028C>G XP_005277987.1:p.Val1676=
XM_005277932.2:c.3891C>G XP_005277989.1:p.Val1297=
XM_006718478.2:c.4998C>G XP_006718541.1:p.Val1666=
XM_011544854.1:c.5040C>G XP_011543156.1:p.Val1680=
XM_011544855.1:c.5019C>G XP_011543157.1:p.Val1673=
XM_011544856.1:c.5013C>G XP_011543158.1:p.Val1671=
XM_011544857.1:c.4992C>G XP_011543159.1:p.Val1664=
XM_011544859.1:c.3903C>G XP_011543161.1:p.Val1301=
XM_005277932.3:c.3891C>G XP_005277989.1:p.Val1297=
XM_017017387.1:c.5028C>G XP_016872876.1:p.Val1676=
XM_017017388.1:c.5028C>G XP_016872877.1:p.Val1676=
XM_017017389.1:c.5001C>G XP_016872878.1:p.Val1667=
XM_017017390.1:c.3318C>G XP_016872879.1:p.Val1106=
NM_133266.5:c.3264C>G NP_573573.2:p.Val1088=
NR_110766.2:n.883C>G
NM_001379226.1:c.3891C>G NP_001366155.1:p.Val1297=
NM_012309.5:c.5028C>G MANE Select NP_036441.2:p.Val1676=