Canonical Allele Identifier: CA381676286

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319372T>G (hg19) ; chr11:g.70473267T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473267T>G , CM000673.2:g.70473267T>G	GRCh38
NC_000011.9:g.70319372T>G , CM000673.1:g.70319372T>G	GRCh37
NC_000011.8:g.69997020T>G	NCBI36
NG_042866.1:g.656530A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3385A>C	ENSP00000345193.7:p.Asn1129His
ENST00000412252.6:c.930A>C	ENSP00000414876.2:n.930A>C
ENST00000601538.6:c.5152A>C MANE Select	ENSP00000469689.2:p.Asn1718His
ENST00000654939.1:c.2661A>C
ENST00000656230.1:c.4015A>C	ENSP00000499561.1:p.Asn1339His
ENST00000659264.1:c.3442A>C	ENSP00000499270.1:p.Asn1148His
ENST00000338508.8:c.3388A>C	ENSP00000345193.6:p.Asn1130His
ENST00000357171.7:c.*156A>C	ENSP00000349694.4:n.*156A>C
ENST00000409161.5:c.3364A>C	ENSP00000386491.1:p.Asn1122His
ENST00000412252.5:c.928A>C
ENST00000423696.6:c.4015A>C	ENSP00000394536.2:p.Asn1339His
ENST00000424924.5:c.2989A>C	ENSP00000402944.1:p.Asn997His
ENST00000449833.6:c.3388A>C	ENSP00000399423.3:p.Asn1130His
ENST00000601538.5:c.5152A>C	ENSP00000469689.2:p.Asn1718His
ENST00000606715.3:n.1904A>C
NM_012309.4:c.5152A>C	NP_036441.2:p.Asn1718His
NM_133266.4:c.3388A>C	NP_573573.2:p.Asn1130His
NR_110766.1:n.1006A>C
XM_005277930.2:c.5152A>C	XP_005277987.1:p.Asn1718His
XM_005277932.2:c.4015A>C	XP_005277989.1:p.Asn1339His
XM_006718478.2:c.5122A>C	XP_006718541.1:p.Asn1708His
XM_011544854.1:c.5164A>C	XP_011543156.1:p.Asn1722His
XM_011544855.1:c.5143A>C	XP_011543157.1:p.Asn1715His
XM_011544856.1:c.5137A>C	XP_011543158.1:p.Asn1713His
XM_011544857.1:c.5116A>C	XP_011543159.1:p.Asn1706His
XM_011544859.1:c.4027A>C	XP_011543161.1:p.Asn1343His
XM_005277932.3:c.4015A>C	XP_005277989.1:p.Asn1339His
XM_017017387.1:c.5152A>C	XP_016872876.1:p.Asn1718His
XM_017017388.1:c.5152A>C	XP_016872877.1:p.Asn1718His
XM_017017389.1:c.5125A>C	XP_016872878.1:p.Asn1709His
XM_017017390.1:c.3442A>C	XP_016872879.1:p.Asn1148His
NM_133266.5:c.3388A>C	NP_573573.2:p.Asn1130His
NR_110766.2:n.1007A>C
NM_001379226.1:c.4015A>C	NP_001366155.1:p.Asn1339His
NM_012309.5:c.5152A>C MANE Select	NP_036441.2:p.Asn1718His