Canonical Allele Identifier: CA6160791

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 385923
• ClinVar RCV Id: RCV000424550
• dbSNP Id: rs139247945
• ExAC: 11:70319538 C / T
• gnomAD v2: 11-70319538-C-T
• gnomAD v3: 11-70473433-C-T
• gnomAD v4: 11-70473433-C-T
• COSMIC: COSM2044073 ; COSM2044074 ; COSM4200419
• MyVariant Identifiers: chr11:g.70319538C>T (hg19) ; chr11:g.70473433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473433C>T , CM000673.2:g.70473433C>T	GRCh38
NC_000011.9:g.70319538C>T , CM000673.1:g.70319538C>T	GRCh37
NC_000011.8:g.69997186C>T	NCBI36
NG_042866.1:g.656364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3219G>A	ENSP00000345193.7:p.Pro1073=
ENST00000412252.6:c.764G>A	ENSP00000414876.2:p.Arg255Gln
ENST00000601538.6:c.4986G>A MANE Select	ENSP00000469689.2:p.Pro1662=
ENST00000654939.1:c.2495G>A
ENST00000656230.1:c.3849G>A	ENSP00000499561.1:p.Pro1283=
ENST00000659264.1:c.3276G>A	ENSP00000499270.1:p.Pro1092=
ENST00000338508.8:c.3222G>A	ENSP00000345193.6:p.Pro1074=
ENST00000357171.7:c.725G>A	ENSP00000349694.4:p.Arg242Gln
ENST00000409161.5:c.3198G>A	ENSP00000386491.1:p.Pro1066=
ENST00000412252.5:c.762G>A
ENST00000423696.6:c.3849G>A	ENSP00000394536.2:p.Pro1283=
ENST00000424924.5:c.2823G>A	ENSP00000402944.1:p.Pro941=
ENST00000449833.6:c.3222G>A	ENSP00000399423.3:p.Pro1074=
ENST00000601538.5:c.4986G>A	ENSP00000469689.2:p.Pro1662=
ENST00000606715.3:n.1738G>A
NM_012309.4:c.4986G>A	NP_036441.2:p.Pro1662=
NM_133266.4:c.3222G>A	NP_573573.2:p.Pro1074=
NR_110766.1:n.840G>A
XM_005277930.2:c.4986G>A	XP_005277987.1:p.Pro1662=
XM_005277932.2:c.3849G>A	XP_005277989.1:p.Pro1283=
XM_006718478.2:c.4956G>A	XP_006718541.1:p.Pro1652=
XM_011544854.1:c.4998G>A	XP_011543156.1:p.Pro1666=
XM_011544855.1:c.4977G>A	XP_011543157.1:p.Pro1659=
XM_011544856.1:c.4971G>A	XP_011543158.1:p.Pro1657=
XM_011544857.1:c.4950G>A	XP_011543159.1:p.Pro1650=
XM_011544859.1:c.3861G>A	XP_011543161.1:p.Pro1287=
XM_005277932.3:c.3849G>A	XP_005277989.1:p.Pro1283=
XM_017017387.1:c.4986G>A	XP_016872876.1:p.Pro1662=
XM_017017388.1:c.4986G>A	XP_016872877.1:p.Pro1662=
XM_017017389.1:c.4959G>A	XP_016872878.1:p.Pro1653=
XM_017017390.1:c.3276G>A	XP_016872879.1:p.Pro1092=
NM_133266.5:c.3222G>A	NP_573573.2:p.Pro1074=
NR_110766.2:n.841G>A
NM_001379226.1:c.3849G>A	NP_001366155.1:p.Pro1283=
NM_012309.5:c.4986G>A MANE Select	NP_036441.2:p.Pro1662=