Canonical Allele Identifier: CA381675852

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319258T>G (hg19) ; chr11:g.70473153T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473153T>G , CM000673.2:g.70473153T>G	GRCh38
NC_000011.9:g.70319258T>G , CM000673.1:g.70319258T>G	GRCh37
NC_000011.8:g.69996906T>G	NCBI36
NG_042866.1:g.656644A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3499A>C	ENSP00000345193.7:p.Asn1167His
ENST00000412252.6:c.1044A>C	ENSP00000414876.2:n.1044A>C
ENST00000601538.6:c.5266A>C MANE Select	ENSP00000469689.2:p.Asn1756His
ENST00000654939.1:c.2775A>C
ENST00000656230.1:c.4129A>C	ENSP00000499561.1:p.Asn1377His
ENST00000659264.1:c.3556A>C	ENSP00000499270.1:p.Asn1186His
ENST00000338508.8:c.3502A>C	ENSP00000345193.6:p.Asn1168His
ENST00000357171.7:c.*270A>C	ENSP00000349694.4:n.*270A>C
ENST00000409161.5:c.3478A>C	ENSP00000386491.1:p.Asn1160His
ENST00000412252.5:c.1042A>C
ENST00000423696.6:c.4129A>C	ENSP00000394536.2:p.Asn1377His
ENST00000424924.5:c.3103A>C	ENSP00000402944.1:p.Asn1035His
ENST00000449833.6:c.3502A>C	ENSP00000399423.3:p.Asn1168His
ENST00000601538.5:c.5266A>C	ENSP00000469689.2:p.Asn1756His
ENST00000606715.3:n.2018A>C
NM_012309.4:c.5266A>C	NP_036441.2:p.Asn1756His
NM_133266.4:c.3502A>C	NP_573573.2:p.Asn1168His
NR_110766.1:n.1120A>C
XM_005277930.2:c.5266A>C	XP_005277987.1:p.Asn1756His
XM_005277932.2:c.4129A>C	XP_005277989.1:p.Asn1377His
XM_006718478.2:c.5236A>C	XP_006718541.1:p.Asn1746His
XM_011544854.1:c.5278A>C	XP_011543156.1:p.Asn1760His
XM_011544855.1:c.5257A>C	XP_011543157.1:p.Asn1753His
XM_011544856.1:c.5251A>C	XP_011543158.1:p.Asn1751His
XM_011544857.1:c.5230A>C	XP_011543159.1:p.Asn1744His
XM_011544859.1:c.4141A>C	XP_011543161.1:p.Asn1381His
XM_005277932.3:c.4129A>C	XP_005277989.1:p.Asn1377His
XM_017017387.1:c.5266A>C	XP_016872876.1:p.Asn1756His
XM_017017388.1:c.5266A>C	XP_016872877.1:p.Asn1756His
XM_017017389.1:c.5239A>C	XP_016872878.1:p.Asn1747His
XM_017017390.1:c.3556A>C	XP_016872879.1:p.Asn1186His
NM_133266.5:c.3502A>C	NP_573573.2:p.Asn1168His
NR_110766.2:n.1121A>C
NM_001379226.1:c.4129A>C	NP_001366155.1:p.Asn1377His
NM_012309.5:c.5266A>C MANE Select	NP_036441.2:p.Asn1756His