Canonical Allele Identifier: CA381676353

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319405C>G (hg19) ; chr11:g.70473300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473300C>G , CM000673.2:g.70473300C>G	GRCh38
NC_000011.9:g.70319405C>G , CM000673.1:g.70319405C>G	GRCh37
NC_000011.8:g.69997053C>G	NCBI36
NG_042866.1:g.656497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3352G>C	ENSP00000345193.7:p.Ala1118Pro
ENST00000412252.6:c.897G>C	ENSP00000414876.2:n.897G>C
ENST00000601538.6:c.5119G>C MANE Select	ENSP00000469689.2:p.Ala1707Pro
ENST00000654939.1:c.2628G>C
ENST00000656230.1:c.3982G>C	ENSP00000499561.1:p.Ala1328Pro
ENST00000659264.1:c.3409G>C	ENSP00000499270.1:p.Ala1137Pro
ENST00000338508.8:c.3355G>C	ENSP00000345193.6:p.Ala1119Pro
ENST00000357171.7:c.*123G>C	ENSP00000349694.4:n.*123G>C
ENST00000409161.5:c.3331G>C	ENSP00000386491.1:p.Ala1111Pro
ENST00000412252.5:c.895G>C
ENST00000423696.6:c.3982G>C	ENSP00000394536.2:p.Ala1328Pro
ENST00000424924.5:c.2956G>C	ENSP00000402944.1:p.Ala986Pro
ENST00000449833.6:c.3355G>C	ENSP00000399423.3:p.Ala1119Pro
ENST00000601538.5:c.5119G>C	ENSP00000469689.2:p.Ala1707Pro
ENST00000606715.3:n.1871G>C
NM_012309.4:c.5119G>C	NP_036441.2:p.Ala1707Pro
NM_133266.4:c.3355G>C	NP_573573.2:p.Ala1119Pro
NR_110766.1:n.973G>C
XM_005277930.2:c.5119G>C	XP_005277987.1:p.Ala1707Pro
XM_005277932.2:c.3982G>C	XP_005277989.1:p.Ala1328Pro
XM_006718478.2:c.5089G>C	XP_006718541.1:p.Ala1697Pro
XM_011544854.1:c.5131G>C	XP_011543156.1:p.Ala1711Pro
XM_011544855.1:c.5110G>C	XP_011543157.1:p.Ala1704Pro
XM_011544856.1:c.5104G>C	XP_011543158.1:p.Ala1702Pro
XM_011544857.1:c.5083G>C	XP_011543159.1:p.Ala1695Pro
XM_011544859.1:c.3994G>C	XP_011543161.1:p.Ala1332Pro
XM_005277932.3:c.3982G>C	XP_005277989.1:p.Ala1328Pro
XM_017017387.1:c.5119G>C	XP_016872876.1:p.Ala1707Pro
XM_017017388.1:c.5119G>C	XP_016872877.1:p.Ala1707Pro
XM_017017389.1:c.5092G>C	XP_016872878.1:p.Ala1698Pro
XM_017017390.1:c.3409G>C	XP_016872879.1:p.Ala1137Pro
NM_133266.5:c.3355G>C	NP_573573.2:p.Ala1119Pro
NR_110766.2:n.974G>C
NM_001379226.1:c.3982G>C	NP_001366155.1:p.Ala1328Pro
NM_012309.5:c.5119G>C MANE Select	NP_036441.2:p.Ala1707Pro