Canonical Allele Identifier: CA381676324

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319392A>G (hg19) ; chr11:g.70473287A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473287A>G , CM000673.2:g.70473287A>G	GRCh38
NC_000011.9:g.70319392A>G , CM000673.1:g.70319392A>G	GRCh37
NC_000011.8:g.69997040A>G	NCBI36
NG_042866.1:g.656510T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3365T>C	ENSP00000345193.7:p.Val1122Ala
ENST00000412252.6:c.910T>C	ENSP00000414876.2:n.910T>C
ENST00000601538.6:c.5132T>C MANE Select	ENSP00000469689.2:p.Val1711Ala
ENST00000654939.1:c.2641T>C
ENST00000656230.1:c.3995T>C	ENSP00000499561.1:p.Val1332Ala
ENST00000659264.1:c.3422T>C	ENSP00000499270.1:p.Val1141Ala
ENST00000338508.8:c.3368T>C	ENSP00000345193.6:p.Val1123Ala
ENST00000357171.7:c.*136T>C	ENSP00000349694.4:n.*136T>C
ENST00000409161.5:c.3344T>C	ENSP00000386491.1:p.Val1115Ala
ENST00000412252.5:c.908T>C
ENST00000423696.6:c.3995T>C	ENSP00000394536.2:p.Val1332Ala
ENST00000424924.5:c.2969T>C	ENSP00000402944.1:p.Val990Ala
ENST00000449833.6:c.3368T>C	ENSP00000399423.3:p.Val1123Ala
ENST00000601538.5:c.5132T>C	ENSP00000469689.2:p.Val1711Ala
ENST00000606715.3:n.1884T>C
NM_012309.4:c.5132T>C	NP_036441.2:p.Val1711Ala
NM_133266.4:c.3368T>C	NP_573573.2:p.Val1123Ala
NR_110766.1:n.986T>C
XM_005277930.2:c.5132T>C	XP_005277987.1:p.Val1711Ala
XM_005277932.2:c.3995T>C	XP_005277989.1:p.Val1332Ala
XM_006718478.2:c.5102T>C	XP_006718541.1:p.Val1701Ala
XM_011544854.1:c.5144T>C	XP_011543156.1:p.Val1715Ala
XM_011544855.1:c.5123T>C	XP_011543157.1:p.Val1708Ala
XM_011544856.1:c.5117T>C	XP_011543158.1:p.Val1706Ala
XM_011544857.1:c.5096T>C	XP_011543159.1:p.Val1699Ala
XM_011544859.1:c.4007T>C	XP_011543161.1:p.Val1336Ala
XM_005277932.3:c.3995T>C	XP_005277989.1:p.Val1332Ala
XM_017017387.1:c.5132T>C	XP_016872876.1:p.Val1711Ala
XM_017017388.1:c.5132T>C	XP_016872877.1:p.Val1711Ala
XM_017017389.1:c.5105T>C	XP_016872878.1:p.Val1702Ala
XM_017017390.1:c.3422T>C	XP_016872879.1:p.Val1141Ala
NM_133266.5:c.3368T>C	NP_573573.2:p.Val1123Ala
NR_110766.2:n.987T>C
NM_001379226.1:c.3995T>C	NP_001366155.1:p.Val1332Ala
NM_012309.5:c.5132T>C MANE Select	NP_036441.2:p.Val1711Ala