Canonical Allele Identifier: CA6160953

Gene: SHANK2

Linked Data

• dbSNP Id: rs782151246
• ExAC: 11:70332164 G / A
• gnomAD v2: 11-70332164-G-A
• gnomAD v4: 11-70486059-G-A
• COSMIC: COSM5839493 ; COSM5839494 ; COSM5839495
• MyVariant Identifiers: chr11:g.70332164G>A (hg19) ; chr11:g.70486059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486059G>A , CM000673.2:g.70486059G>A	GRCh38
NC_000011.9:g.70332164G>A , CM000673.1:g.70332164G>A	GRCh37
NC_000011.8:g.70009812G>A	NCBI36
NG_042866.1:g.643738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2467C>T	ENSP00000345193.7:p.Pro823Ser
ENST00000412252.6:c.757+4244C>T	ENSP00000414876.2:n.757+4244C>T
ENST00000601538.6:c.4234C>T MANE Select	ENSP00000469689.2:p.Pro1412Ser
ENST00000654939.1:c.1662C>T
ENST00000656230.1:c.3097C>T	ENSP00000499561.1:p.Pro1033Ser
ENST00000659264.1:c.2524C>T	ENSP00000499270.1:p.Pro842Ser
ENST00000338508.8:c.2470C>T	ENSP00000345193.6:p.Pro824Ser
ENST00000357171.7:c.718+4244C>T	ENSP00000349694.4:n.718+4244C>T
ENST00000409161.5:c.2446C>T	ENSP00000386491.1:p.Pro816Ser
ENST00000412252.5:c.755+4244C>T
ENST00000423696.6:c.3097C>T	ENSP00000394536.2:p.Pro1033Ser
ENST00000424924.5:c.2071C>T	ENSP00000402944.1:p.Pro691Ser
ENST00000449833.6:c.2470C>T	ENSP00000399423.3:p.Pro824Ser
ENST00000601538.5:c.4234C>T	ENSP00000469689.2:p.Pro1412Ser
NM_012309.4:c.4234C>T	NP_036441.2:p.Pro1412Ser
NM_133266.4:c.2470C>T	NP_573573.2:p.Pro824Ser
NR_110766.1:n.833+4244C>T
XM_005277930.2:c.4234C>T	XP_005277987.1:p.Pro1412Ser
XM_005277932.2:c.3097C>T	XP_005277989.1:p.Pro1033Ser
XM_006718478.2:c.4204C>T	XP_006718541.1:p.Pro1402Ser
XM_011544854.1:c.4246C>T	XP_011543156.1:p.Pro1416Ser
XM_011544855.1:c.4225C>T	XP_011543157.1:p.Pro1409Ser
XM_011544856.1:c.4219C>T	XP_011543158.1:p.Pro1407Ser
XM_011544857.1:c.4198C>T	XP_011543159.1:p.Pro1400Ser
XM_011544858.1:c.4246C>T	XP_011543160.1:p.Pro1416Ser
XM_011544859.1:c.3109C>T	XP_011543161.1:p.Pro1037Ser
XM_005277932.3:c.3097C>T	XP_005277989.1:p.Pro1033Ser
XM_017017387.1:c.4234C>T	XP_016872876.1:p.Pro1412Ser
XM_017017388.1:c.4234C>T	XP_016872877.1:p.Pro1412Ser
XM_017017389.1:c.4207C>T	XP_016872878.1:p.Pro1403Ser
XM_017017390.1:c.2524C>T	XP_016872879.1:p.Pro842Ser
NM_133266.5:c.2470C>T	NP_573573.2:p.Pro824Ser
NR_110766.2:n.834+4244C>T
NM_001379226.1:c.3097C>T	NP_001366155.1:p.Pro1033Ser
NM_012309.5:c.4234C>T MANE Select	NP_036441.2:p.Pro1412Ser