Canonical Allele Identifier: CA381675956

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319276C>A (hg19) ; chr11:g.70473171C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473171C>A , CM000673.2:g.70473171C>A	GRCh38
NC_000011.9:g.70319276C>A , CM000673.1:g.70319276C>A	GRCh37
NC_000011.8:g.69996924C>A	NCBI36
NG_042866.1:g.656626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3481G>T	ENSP00000345193.7:p.Gly1161Trp
ENST00000412252.6:c.1026G>T	ENSP00000414876.2:n.1026G>T
ENST00000601538.6:c.5248G>T MANE Select	ENSP00000469689.2:p.Gly1750Trp
ENST00000654939.1:c.2757G>T
ENST00000656230.1:c.4111G>T	ENSP00000499561.1:p.Gly1371Trp
ENST00000659264.1:c.3538G>T	ENSP00000499270.1:p.Gly1180Trp
ENST00000338508.8:c.3484G>T	ENSP00000345193.6:p.Gly1162Trp
ENST00000357171.7:c.*252G>T	ENSP00000349694.4:n.*252G>T
ENST00000409161.5:c.3460G>T	ENSP00000386491.1:p.Gly1154Trp
ENST00000412252.5:c.1024G>T
ENST00000423696.6:c.4111G>T	ENSP00000394536.2:p.Gly1371Trp
ENST00000424924.5:c.3085G>T	ENSP00000402944.1:p.Gly1029Trp
ENST00000449833.6:c.3484G>T	ENSP00000399423.3:p.Gly1162Trp
ENST00000601538.5:c.5248G>T	ENSP00000469689.2:p.Gly1750Trp
ENST00000606715.3:n.2000G>T
NM_012309.4:c.5248G>T	NP_036441.2:p.Gly1750Trp
NM_133266.4:c.3484G>T	NP_573573.2:p.Gly1162Trp
NR_110766.1:n.1102G>T
XM_005277930.2:c.5248G>T	XP_005277987.1:p.Gly1750Trp
XM_005277932.2:c.4111G>T	XP_005277989.1:p.Gly1371Trp
XM_006718478.2:c.5218G>T	XP_006718541.1:p.Gly1740Trp
XM_011544854.1:c.5260G>T	XP_011543156.1:p.Gly1754Trp
XM_011544855.1:c.5239G>T	XP_011543157.1:p.Gly1747Trp
XM_011544856.1:c.5233G>T	XP_011543158.1:p.Gly1745Trp
XM_011544857.1:c.5212G>T	XP_011543159.1:p.Gly1738Trp
XM_011544859.1:c.4123G>T	XP_011543161.1:p.Gly1375Trp
XM_005277932.3:c.4111G>T	XP_005277989.1:p.Gly1371Trp
XM_017017387.1:c.5248G>T	XP_016872876.1:p.Gly1750Trp
XM_017017388.1:c.5248G>T	XP_016872877.1:p.Gly1750Trp
XM_017017389.1:c.5221G>T	XP_016872878.1:p.Gly1741Trp
XM_017017390.1:c.3538G>T	XP_016872879.1:p.Gly1180Trp
NM_133266.5:c.3484G>T	NP_573573.2:p.Gly1162Trp
NR_110766.2:n.1103G>T
NM_001379226.1:c.4111G>T	NP_001366155.1:p.Gly1371Trp
NM_012309.5:c.5248G>T MANE Select	NP_036441.2:p.Gly1750Trp