Canonical Allele Identifier: CA475470791

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473373-G-T
• MyVariant Identifiers: chr11:g.70319478G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473373G>T , CM000673.2:g.70473373G>T	GRCh38
NC_000011.9:g.70319478G>T , CM000673.1:g.70319478G>T	GRCh37
NC_000011.8:g.69997126G>T	NCBI36
NG_042866.1:g.656424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3279C>A	ENSP00000345193.7:p.Pro1093=
ENST00000412252.6:c.824C>A	ENSP00000414876.2:n.824C>A
ENST00000601538.6:c.5046C>A MANE Select	ENSP00000469689.2:p.Pro1682=
ENST00000654939.1:c.2555C>A
ENST00000656230.1:c.3909C>A	ENSP00000499561.1:p.Pro1303=
ENST00000659264.1:c.3336C>A	ENSP00000499270.1:p.Pro1112=
ENST00000338508.8:c.3282C>A	ENSP00000345193.6:p.Pro1094=
ENST00000357171.7:c.*50C>A	ENSP00000349694.4:n.*50C>A
ENST00000409161.5:c.3258C>A	ENSP00000386491.1:p.Pro1086=
ENST00000412252.5:c.822C>A
ENST00000423696.6:c.3909C>A	ENSP00000394536.2:p.Pro1303=
ENST00000424924.5:c.2883C>A	ENSP00000402944.1:p.Pro961=
ENST00000449833.6:c.3282C>A	ENSP00000399423.3:p.Pro1094=
ENST00000601538.5:c.5046C>A	ENSP00000469689.2:p.Pro1682=
ENST00000606715.3:n.1798C>A
NM_012309.4:c.5046C>A	NP_036441.2:p.Pro1682=
NM_133266.4:c.3282C>A	NP_573573.2:p.Pro1094=
NR_110766.1:n.900C>A
XM_005277930.2:c.5046C>A	XP_005277987.1:p.Pro1682=
XM_005277932.2:c.3909C>A	XP_005277989.1:p.Pro1303=
XM_006718478.2:c.5016C>A	XP_006718541.1:p.Pro1672=
XM_011544854.1:c.5058C>A	XP_011543156.1:p.Pro1686=
XM_011544855.1:c.5037C>A	XP_011543157.1:p.Pro1679=
XM_011544856.1:c.5031C>A	XP_011543158.1:p.Pro1677=
XM_011544857.1:c.5010C>A	XP_011543159.1:p.Pro1670=
XM_011544859.1:c.3921C>A	XP_011543161.1:p.Pro1307=
XM_005277932.3:c.3909C>A	XP_005277989.1:p.Pro1303=
XM_017017387.1:c.5046C>A	XP_016872876.1:p.Pro1682=
XM_017017388.1:c.5046C>A	XP_016872877.1:p.Pro1682=
XM_017017389.1:c.5019C>A	XP_016872878.1:p.Pro1673=
XM_017017390.1:c.3336C>A	XP_016872879.1:p.Pro1112=
NM_133266.5:c.3282C>A	NP_573573.2:p.Pro1094=
NR_110766.2:n.901C>A
NM_001379226.1:c.3909C>A	NP_001366155.1:p.Pro1303=
NM_012309.5:c.5046C>A MANE Select	NP_036441.2:p.Pro1682=