Canonical Allele Identifier: CA381676430

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319443G>C (hg19) ; chr11:g.70473338G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473338G>C , CM000673.2:g.70473338G>C	GRCh38
NC_000011.9:g.70319443G>C , CM000673.1:g.70319443G>C	GRCh37
NC_000011.8:g.69997091G>C	NCBI36
NG_042866.1:g.656459C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3314C>G	ENSP00000345193.7:p.Pro1105Arg
ENST00000412252.6:c.859C>G	ENSP00000414876.2:n.859C>G
ENST00000601538.6:c.5081C>G MANE Select	ENSP00000469689.2:p.Pro1694Arg
ENST00000654939.1:c.2590C>G
ENST00000656230.1:c.3944C>G	ENSP00000499561.1:p.Pro1315Arg
ENST00000659264.1:c.3371C>G	ENSP00000499270.1:p.Pro1124Arg
ENST00000338508.8:c.3317C>G	ENSP00000345193.6:p.Pro1106Arg
ENST00000357171.7:c.*85C>G	ENSP00000349694.4:n.*85C>G
ENST00000409161.5:c.3293C>G	ENSP00000386491.1:p.Pro1098Arg
ENST00000412252.5:c.857C>G
ENST00000423696.6:c.3944C>G	ENSP00000394536.2:p.Pro1315Arg
ENST00000424924.5:c.2918C>G	ENSP00000402944.1:p.Pro973Arg
ENST00000449833.6:c.3317C>G	ENSP00000399423.3:p.Pro1106Arg
ENST00000601538.5:c.5081C>G	ENSP00000469689.2:p.Pro1694Arg
ENST00000606715.3:n.1833C>G
NM_012309.4:c.5081C>G	NP_036441.2:p.Pro1694Arg
NM_133266.4:c.3317C>G	NP_573573.2:p.Pro1106Arg
NR_110766.1:n.935C>G
XM_005277930.2:c.5081C>G	XP_005277987.1:p.Pro1694Arg
XM_005277932.2:c.3944C>G	XP_005277989.1:p.Pro1315Arg
XM_006718478.2:c.5051C>G	XP_006718541.1:p.Pro1684Arg
XM_011544854.1:c.5093C>G	XP_011543156.1:p.Pro1698Arg
XM_011544855.1:c.5072C>G	XP_011543157.1:p.Pro1691Arg
XM_011544856.1:c.5066C>G	XP_011543158.1:p.Pro1689Arg
XM_011544857.1:c.5045C>G	XP_011543159.1:p.Pro1682Arg
XM_011544859.1:c.3956C>G	XP_011543161.1:p.Pro1319Arg
XM_005277932.3:c.3944C>G	XP_005277989.1:p.Pro1315Arg
XM_017017387.1:c.5081C>G	XP_016872876.1:p.Pro1694Arg
XM_017017388.1:c.5081C>G	XP_016872877.1:p.Pro1694Arg
XM_017017389.1:c.5054C>G	XP_016872878.1:p.Pro1685Arg
XM_017017390.1:c.3371C>G	XP_016872879.1:p.Pro1124Arg
NM_133266.5:c.3317C>G	NP_573573.2:p.Pro1106Arg
NR_110766.2:n.936C>G
NM_001379226.1:c.3944C>G	NP_001366155.1:p.Pro1315Arg
NM_012309.5:c.5081C>G MANE Select	NP_036441.2:p.Pro1694Arg