Canonical Allele Identifier: CA475470828
Gene: SHANK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.70319502C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70473397C>G , CM000673.2:g.70473397C>G GRCh38
NC_000011.9:g.70319502C>G , CM000673.1:g.70319502C>G GRCh37
NC_000011.8:g.69997150C>G NCBI36
NG_042866.1:g.656400G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338508.9:c.3255G>C ENSP00000345193.7:p.Thr1085=
ENST00000412252.6:c.800G>C ENSP00000414876.2:n.800G>C
ENST00000601538.6:c.5022G>C MANE Select ENSP00000469689.2:p.Thr1674=
ENST00000654939.1:c.2531G>C
ENST00000656230.1:c.3885G>C ENSP00000499561.1:p.Thr1295=
ENST00000659264.1:c.3312G>C ENSP00000499270.1:p.Thr1104=
ENST00000338508.8:c.3258G>C ENSP00000345193.6:p.Thr1086=
ENST00000357171.7:c.*26G>C ENSP00000349694.4:n.*26G>C
ENST00000409161.5:c.3234G>C ENSP00000386491.1:p.Thr1078=
ENST00000412252.5:c.798G>C
ENST00000423696.6:c.3885G>C ENSP00000394536.2:p.Thr1295=
ENST00000424924.5:c.2859G>C ENSP00000402944.1:p.Thr953=
ENST00000449833.6:c.3258G>C ENSP00000399423.3:p.Thr1086=
ENST00000601538.5:c.5022G>C ENSP00000469689.2:p.Thr1674=
ENST00000606715.3:n.1774G>C
NM_012309.4:c.5022G>C NP_036441.2:p.Thr1674=
NM_133266.4:c.3258G>C NP_573573.2:p.Thr1086=
NR_110766.1:n.876G>C
XM_005277930.2:c.5022G>C XP_005277987.1:p.Thr1674=
XM_005277932.2:c.3885G>C XP_005277989.1:p.Thr1295=
XM_006718478.2:c.4992G>C XP_006718541.1:p.Thr1664=
XM_011544854.1:c.5034G>C XP_011543156.1:p.Thr1678=
XM_011544855.1:c.5013G>C XP_011543157.1:p.Thr1671=
XM_011544856.1:c.5007G>C XP_011543158.1:p.Thr1669=
XM_011544857.1:c.4986G>C XP_011543159.1:p.Thr1662=
XM_011544859.1:c.3897G>C XP_011543161.1:p.Thr1299=
XM_005277932.3:c.3885G>C XP_005277989.1:p.Thr1295=
XM_017017387.1:c.5022G>C XP_016872876.1:p.Thr1674=
XM_017017388.1:c.5022G>C XP_016872877.1:p.Thr1674=
XM_017017389.1:c.4995G>C XP_016872878.1:p.Thr1665=
XM_017017390.1:c.3312G>C XP_016872879.1:p.Thr1104=
NM_133266.5:c.3258G>C NP_573573.2:p.Thr1086=
NR_110766.2:n.877G>C
NM_001379226.1:c.3885G>C NP_001366155.1:p.Thr1295=
NM_012309.5:c.5022G>C MANE Select NP_036441.2:p.Thr1674=