Canonical Allele Identifier: CA475471327

Gene: SHANK2

Linked Data

• dbSNP Id: rs1555153235
• gnomAD v2: 11-70332165-C-T
• gnomAD v4: 11-70486060-C-T
• MyVariant Identifiers: chr11:g.70332165C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486060C>T , CM000673.2:g.70486060C>T	GRCh38
NC_000011.9:g.70332165C>T , CM000673.1:g.70332165C>T	GRCh37
NC_000011.8:g.70009813C>T	NCBI36
NG_042866.1:g.643737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2466G>A	ENSP00000345193.7:p.Leu822=
ENST00000412252.6:c.757+4243G>A	ENSP00000414876.2:n.757+4243G>A
ENST00000601538.6:c.4233G>A MANE Select	ENSP00000469689.2:p.Leu1411=
ENST00000654939.1:c.1661G>A
ENST00000656230.1:c.3096G>A	ENSP00000499561.1:p.Leu1032=
ENST00000659264.1:c.2523G>A	ENSP00000499270.1:p.Leu841=
ENST00000338508.8:c.2469G>A	ENSP00000345193.6:p.Leu823=
ENST00000357171.7:c.718+4243G>A	ENSP00000349694.4:n.718+4243G>A
ENST00000409161.5:c.2445G>A	ENSP00000386491.1:p.Leu815=
ENST00000412252.5:c.755+4243G>A
ENST00000423696.6:c.3096G>A	ENSP00000394536.2:p.Leu1032=
ENST00000424924.5:c.2070G>A	ENSP00000402944.1:p.Leu690=
ENST00000449833.6:c.2469G>A	ENSP00000399423.3:p.Leu823=
ENST00000601538.5:c.4233G>A	ENSP00000469689.2:p.Leu1411=
NM_012309.4:c.4233G>A	NP_036441.2:p.Leu1411=
NM_133266.4:c.2469G>A	NP_573573.2:p.Leu823=
NR_110766.1:n.833+4243G>A
XM_005277930.2:c.4233G>A	XP_005277987.1:p.Leu1411=
XM_005277932.2:c.3096G>A	XP_005277989.1:p.Leu1032=
XM_006718478.2:c.4203G>A	XP_006718541.1:p.Leu1401=
XM_011544854.1:c.4245G>A	XP_011543156.1:p.Leu1415=
XM_011544855.1:c.4224G>A	XP_011543157.1:p.Leu1408=
XM_011544856.1:c.4218G>A	XP_011543158.1:p.Leu1406=
XM_011544857.1:c.4197G>A	XP_011543159.1:p.Leu1399=
XM_011544858.1:c.4245G>A	XP_011543160.1:p.Leu1415=
XM_011544859.1:c.3108G>A	XP_011543161.1:p.Leu1036=
XM_005277932.3:c.3096G>A	XP_005277989.1:p.Leu1032=
XM_017017387.1:c.4233G>A	XP_016872876.1:p.Leu1411=
XM_017017388.1:c.4233G>A	XP_016872877.1:p.Leu1411=
XM_017017389.1:c.4206G>A	XP_016872878.1:p.Leu1402=
XM_017017390.1:c.2523G>A	XP_016872879.1:p.Leu841=
NM_133266.5:c.2469G>A	NP_573573.2:p.Leu823=
NR_110766.2:n.834+4243G>A
NM_001379226.1:c.3096G>A	NP_001366155.1:p.Leu1032=
NM_012309.5:c.4233G>A MANE Select	NP_036441.2:p.Leu1411=