Canonical Allele Identifier: CA6160945

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 436704
• ClinVar RCV Id: RCV000504271 ; RCV001726203
• dbSNP Id: rs116984460
• ExAC: 11:70332111 A / G
• gnomAD v2: 11-70332111-A-G
• gnomAD v3: 11-70486006-A-G
• gnomAD v4: 11-70486006-A-G
• MyVariant Identifiers: chr11:g.70332111A>G (hg19) ; chr11:g.70486006A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486006A>G , CM000673.2:g.70486006A>G	GRCh38
NC_000011.9:g.70332111A>G , CM000673.1:g.70332111A>G	GRCh37
NC_000011.8:g.70009759A>G	NCBI36
NG_042866.1:g.643791T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000338508.9:c.2520T>C	ENSP00000345193.7:p.Ala840=
ENST00000412252.6:c.757+4297T>C	ENSP00000414876.2:n.757+4297T>C
ENST00000601538.6:c.4287T>C MANE Select	ENSP00000469689.2:p.Ala1429=
ENST00000654939.1:c.1715T>C
ENST00000656230.1:c.3150T>C	ENSP00000499561.1:p.Ala1050=
ENST00000659264.1:c.2577T>C	ENSP00000499270.1:p.Ala859=
ENST00000338508.8:c.2523T>C	ENSP00000345193.6:p.Ala841=
ENST00000357171.7:c.718+4297T>C	ENSP00000349694.4:n.718+4297T>C
ENST00000409161.5:c.2499T>C	ENSP00000386491.1:p.Ala833=
ENST00000412252.5:c.755+4297T>C
ENST00000423696.6:c.3150T>C	ENSP00000394536.2:p.Ala1050=
ENST00000424924.5:c.2124T>C	ENSP00000402944.1:p.Ala708=
ENST00000449833.6:c.2523T>C	ENSP00000399423.3:p.Ala841=
ENST00000601538.5:c.4287T>C	ENSP00000469689.2:p.Ala1429=
NM_012309.4:c.4287T>C	NP_036441.2:p.Ala1429=
NM_133266.4:c.2523T>C	NP_573573.2:p.Ala841=
NR_110766.1:n.833+4297T>C
XM_005277930.2:c.4287T>C	XP_005277987.1:p.Ala1429=
XM_005277932.2:c.3150T>C	XP_005277989.1:p.Ala1050=
XM_006718478.2:c.4257T>C	XP_006718541.1:p.Ala1419=
XM_011544854.1:c.4299T>C	XP_011543156.1:p.Ala1433=
XM_011544855.1:c.4278T>C	XP_011543157.1:p.Ala1426=
XM_011544856.1:c.4272T>C	XP_011543158.1:p.Ala1424=
XM_011544857.1:c.4251T>C	XP_011543159.1:p.Ala1417=
XM_011544858.1:c.4299T>C	XP_011543160.1:p.Ala1433=
XM_011544859.1:c.3162T>C	XP_011543161.1:p.Ala1054=
XM_005277932.3:c.3150T>C	XP_005277989.1:p.Ala1050=
XM_017017387.1:c.4287T>C	XP_016872876.1:p.Ala1429=
XM_017017388.1:c.4287T>C	XP_016872877.1:p.Ala1429=
XM_017017389.1:c.4260T>C	XP_016872878.1:p.Ala1420=
XM_017017390.1:c.2577T>C	XP_016872879.1:p.Ala859=
NM_133266.5:c.2523T>C	NP_573573.2:p.Ala841=
NR_110766.2:n.834+4297T>C
NM_001379226.1:c.3150T>C	NP_001366155.1:p.Ala1050=
NM_012309.5:c.4287T>C MANE Select	NP_036441.2:p.Ala1429=