Canonical Allele Identifier: CA475470688

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473253-C-T
• MyVariant Identifiers: chr11:g.70319358C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473253C>T , CM000673.2:g.70473253C>T	GRCh38
NC_000011.9:g.70319358C>T , CM000673.1:g.70319358C>T	GRCh37
NC_000011.8:g.69997006C>T	NCBI36
NG_042866.1:g.656544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3399G>A	ENSP00000345193.7:p.Leu1133=
ENST00000412252.6:c.944G>A	ENSP00000414876.2:n.944G>A
ENST00000601538.6:c.5166G>A MANE Select	ENSP00000469689.2:p.Leu1722=
ENST00000654939.1:c.2675G>A
ENST00000656230.1:c.4029G>A	ENSP00000499561.1:p.Leu1343=
ENST00000659264.1:c.3456G>A	ENSP00000499270.1:p.Leu1152=
ENST00000338508.8:c.3402G>A	ENSP00000345193.6:p.Leu1134=
ENST00000357171.7:c.*170G>A	ENSP00000349694.4:n.*170G>A
ENST00000409161.5:c.3378G>A	ENSP00000386491.1:p.Leu1126=
ENST00000412252.5:c.942G>A
ENST00000423696.6:c.4029G>A	ENSP00000394536.2:p.Leu1343=
ENST00000424924.5:c.3003G>A	ENSP00000402944.1:p.Leu1001=
ENST00000449833.6:c.3402G>A	ENSP00000399423.3:p.Leu1134=
ENST00000601538.5:c.5166G>A	ENSP00000469689.2:p.Leu1722=
ENST00000606715.3:n.1918G>A
NM_012309.4:c.5166G>A	NP_036441.2:p.Leu1722=
NM_133266.4:c.3402G>A	NP_573573.2:p.Leu1134=
NR_110766.1:n.1020G>A
XM_005277930.2:c.5166G>A	XP_005277987.1:p.Leu1722=
XM_005277932.2:c.4029G>A	XP_005277989.1:p.Leu1343=
XM_006718478.2:c.5136G>A	XP_006718541.1:p.Leu1712=
XM_011544854.1:c.5178G>A	XP_011543156.1:p.Leu1726=
XM_011544855.1:c.5157G>A	XP_011543157.1:p.Leu1719=
XM_011544856.1:c.5151G>A	XP_011543158.1:p.Leu1717=
XM_011544857.1:c.5130G>A	XP_011543159.1:p.Leu1710=
XM_011544859.1:c.4041G>A	XP_011543161.1:p.Leu1347=
XM_005277932.3:c.4029G>A	XP_005277989.1:p.Leu1343=
XM_017017387.1:c.5166G>A	XP_016872876.1:p.Leu1722=
XM_017017388.1:c.5166G>A	XP_016872877.1:p.Leu1722=
XM_017017389.1:c.5139G>A	XP_016872878.1:p.Leu1713=
XM_017017390.1:c.3456G>A	XP_016872879.1:p.Leu1152=
NM_133266.5:c.3402G>A	NP_573573.2:p.Leu1134=
NR_110766.2:n.1021G>A
NM_001379226.1:c.4029G>A	NP_001366155.1:p.Leu1343=
NM_012309.5:c.5166G>A MANE Select	NP_036441.2:p.Leu1722=