Canonical Allele Identifier: CA381675690

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319228G>C (hg19) ; chr11:g.70473123G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473123G>C , CM000673.2:g.70473123G>C	GRCh38
NC_000011.9:g.70319228G>C , CM000673.1:g.70319228G>C	GRCh37
NC_000011.8:g.69996876G>C	NCBI36
NG_042866.1:g.656674C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3529C>G	ENSP00000345193.7:p.Pro1177Ala
ENST00000412252.6:c.1074C>G	ENSP00000414876.2:n.1074C>G
ENST00000601538.6:c.5296C>G MANE Select	ENSP00000469689.2:p.Pro1766Ala
ENST00000654939.1:c.2805C>G
ENST00000656230.1:c.4159C>G	ENSP00000499561.1:p.Pro1387Ala
ENST00000659264.1:c.3586C>G	ENSP00000499270.1:p.Pro1196Ala
ENST00000338508.8:c.3532C>G	ENSP00000345193.6:p.Pro1178Ala
ENST00000357171.7:c.*300C>G	ENSP00000349694.4:n.*300C>G
ENST00000409161.5:c.3508C>G	ENSP00000386491.1:p.Pro1170Ala
ENST00000412252.5:c.1072C>G
ENST00000423696.6:c.4159C>G	ENSP00000394536.2:p.Pro1387Ala
ENST00000424924.5:c.3133C>G	ENSP00000402944.1:p.Pro1045Ala
ENST00000449833.6:c.3532C>G	ENSP00000399423.3:p.Pro1178Ala
ENST00000601538.5:c.5296C>G	ENSP00000469689.2:p.Pro1766Ala
ENST00000606715.3:n.2048C>G
NM_012309.4:c.5296C>G	NP_036441.2:p.Pro1766Ala
NM_133266.4:c.3532C>G	NP_573573.2:p.Pro1178Ala
NR_110766.1:n.1150C>G
XM_005277930.2:c.5296C>G	XP_005277987.1:p.Pro1766Ala
XM_005277932.2:c.4159C>G	XP_005277989.1:p.Pro1387Ala
XM_006718478.2:c.5266C>G	XP_006718541.1:p.Pro1756Ala
XM_011544854.1:c.5308C>G	XP_011543156.1:p.Pro1770Ala
XM_011544855.1:c.5287C>G	XP_011543157.1:p.Pro1763Ala
XM_011544856.1:c.5281C>G	XP_011543158.1:p.Pro1761Ala
XM_011544857.1:c.5260C>G	XP_011543159.1:p.Pro1754Ala
XM_011544859.1:c.4171C>G	XP_011543161.1:p.Pro1391Ala
XM_005277932.3:c.4159C>G	XP_005277989.1:p.Pro1387Ala
XM_017017387.1:c.5296C>G	XP_016872876.1:p.Pro1766Ala
XM_017017388.1:c.5296C>G	XP_016872877.1:p.Pro1766Ala
XM_017017389.1:c.5269C>G	XP_016872878.1:p.Pro1757Ala
XM_017017390.1:c.3586C>G	XP_016872879.1:p.Pro1196Ala
NM_133266.5:c.3532C>G	NP_573573.2:p.Pro1178Ala
NR_110766.2:n.1151C>G
NM_001379226.1:c.4159C>G	NP_001366155.1:p.Pro1387Ala
NM_012309.5:c.5296C>G MANE Select	NP_036441.2:p.Pro1766Ala