Canonical Allele Identifier: CA475471271

Gene: SHANK2

Linked Data

• dbSNP Id: rs1473269606
• gnomAD v2: 11-70332129-G-A
• gnomAD v4: 11-70486024-G-A
• COSMIC: COSM3452766 ; COSM3452767 ; COSM4894682
• MyVariant Identifiers: chr11:g.70332129G>A (hg19) ; chr11:g.70486024G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486024G>A , CM000673.2:g.70486024G>A	GRCh38
NC_000011.9:g.70332129G>A , CM000673.1:g.70332129G>A	GRCh37
NC_000011.8:g.70009777G>A	NCBI36
NG_042866.1:g.643773C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2502C>T	ENSP00000345193.7:p.Ile834=
ENST00000412252.6:c.757+4279C>T	ENSP00000414876.2:n.757+4279C>T
ENST00000601538.6:c.4269C>T MANE Select	ENSP00000469689.2:p.Ile1423=
ENST00000654939.1:c.1697C>T
ENST00000656230.1:c.3132C>T	ENSP00000499561.1:p.Ile1044=
ENST00000659264.1:c.2559C>T	ENSP00000499270.1:p.Ile853=
ENST00000338508.8:c.2505C>T	ENSP00000345193.6:p.Ile835=
ENST00000357171.7:c.718+4279C>T	ENSP00000349694.4:n.718+4279C>T
ENST00000409161.5:c.2481C>T	ENSP00000386491.1:p.Ile827=
ENST00000412252.5:c.755+4279C>T
ENST00000423696.6:c.3132C>T	ENSP00000394536.2:p.Ile1044=
ENST00000424924.5:c.2106C>T	ENSP00000402944.1:p.Ile702=
ENST00000449833.6:c.2505C>T	ENSP00000399423.3:p.Ile835=
ENST00000601538.5:c.4269C>T	ENSP00000469689.2:p.Ile1423=
NM_012309.4:c.4269C>T	NP_036441.2:p.Ile1423=
NM_133266.4:c.2505C>T	NP_573573.2:p.Ile835=
NR_110766.1:n.833+4279C>T
XM_005277930.2:c.4269C>T	XP_005277987.1:p.Ile1423=
XM_005277932.2:c.3132C>T	XP_005277989.1:p.Ile1044=
XM_006718478.2:c.4239C>T	XP_006718541.1:p.Ile1413=
XM_011544854.1:c.4281C>T	XP_011543156.1:p.Ile1427=
XM_011544855.1:c.4260C>T	XP_011543157.1:p.Ile1420=
XM_011544856.1:c.4254C>T	XP_011543158.1:p.Ile1418=
XM_011544857.1:c.4233C>T	XP_011543159.1:p.Ile1411=
XM_011544858.1:c.4281C>T	XP_011543160.1:p.Ile1427=
XM_011544859.1:c.3144C>T	XP_011543161.1:p.Ile1048=
XM_005277932.3:c.3132C>T	XP_005277989.1:p.Ile1044=
XM_017017387.1:c.4269C>T	XP_016872876.1:p.Ile1423=
XM_017017388.1:c.4269C>T	XP_016872877.1:p.Ile1423=
XM_017017389.1:c.4242C>T	XP_016872878.1:p.Ile1414=
XM_017017390.1:c.2559C>T	XP_016872879.1:p.Ile853=
NM_133266.5:c.2505C>T	NP_573573.2:p.Ile835=
NR_110766.2:n.834+4279C>T
NM_001379226.1:c.3132C>T	NP_001366155.1:p.Ile1044=
NM_012309.5:c.4269C>T MANE Select	NP_036441.2:p.Ile1423=