Canonical Allele Identifier: CA381676211

Gene: SHANK2

Linked Data

• dbSNP Id: rs782139023
• gnomAD v2: 11-70319333-C-A
• gnomAD v4: 11-70473228-C-A
• MyVariant Identifiers: chr11:g.70319333C>A (hg19) ; chr11:g.70473228C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473228C>A , CM000673.2:g.70473228C>A	GRCh38
NC_000011.9:g.70319333C>A , CM000673.1:g.70319333C>A	GRCh37
NC_000011.8:g.69996981C>A	NCBI36
NG_042866.1:g.656569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3424G>T	ENSP00000345193.7:p.Ala1142Ser
ENST00000412252.6:c.969G>T	ENSP00000414876.2:n.969G>T
ENST00000601538.6:c.5191G>T MANE Select	ENSP00000469689.2:p.Ala1731Ser
ENST00000654939.1:c.2700G>T
ENST00000656230.1:c.4054G>T	ENSP00000499561.1:p.Ala1352Ser
ENST00000659264.1:c.3481G>T	ENSP00000499270.1:p.Ala1161Ser
ENST00000338508.8:c.3427G>T	ENSP00000345193.6:p.Ala1143Ser
ENST00000357171.7:c.*195G>T	ENSP00000349694.4:n.*195G>T
ENST00000409161.5:c.3403G>T	ENSP00000386491.1:p.Ala1135Ser
ENST00000412252.5:c.967G>T
ENST00000423696.6:c.4054G>T	ENSP00000394536.2:p.Ala1352Ser
ENST00000424924.5:c.3028G>T	ENSP00000402944.1:p.Ala1010Ser
ENST00000449833.6:c.3427G>T	ENSP00000399423.3:p.Ala1143Ser
ENST00000601538.5:c.5191G>T	ENSP00000469689.2:p.Ala1731Ser
ENST00000606715.3:n.1943G>T
NM_012309.4:c.5191G>T	NP_036441.2:p.Ala1731Ser
NM_133266.4:c.3427G>T	NP_573573.2:p.Ala1143Ser
NR_110766.1:n.1045G>T
XM_005277930.2:c.5191G>T	XP_005277987.1:p.Ala1731Ser
XM_005277932.2:c.4054G>T	XP_005277989.1:p.Ala1352Ser
XM_006718478.2:c.5161G>T	XP_006718541.1:p.Ala1721Ser
XM_011544854.1:c.5203G>T	XP_011543156.1:p.Ala1735Ser
XM_011544855.1:c.5182G>T	XP_011543157.1:p.Ala1728Ser
XM_011544856.1:c.5176G>T	XP_011543158.1:p.Ala1726Ser
XM_011544857.1:c.5155G>T	XP_011543159.1:p.Ala1719Ser
XM_011544859.1:c.4066G>T	XP_011543161.1:p.Ala1356Ser
XM_005277932.3:c.4054G>T	XP_005277989.1:p.Ala1352Ser
XM_017017387.1:c.5191G>T	XP_016872876.1:p.Ala1731Ser
XM_017017388.1:c.5191G>T	XP_016872877.1:p.Ala1731Ser
XM_017017389.1:c.5164G>T	XP_016872878.1:p.Ala1722Ser
XM_017017390.1:c.3481G>T	XP_016872879.1:p.Ala1161Ser
NM_133266.5:c.3427G>T	NP_573573.2:p.Ala1143Ser
NR_110766.2:n.1046G>T
NM_001379226.1:c.4054G>T	NP_001366155.1:p.Ala1352Ser
NM_012309.5:c.5191G>T MANE Select	NP_036441.2:p.Ala1731Ser