Canonical Allele Identifier: CA381675458

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319198T>C (hg19) ; chr11:g.70473093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473093T>C , CM000673.2:g.70473093T>C	GRCh38
NC_000011.9:g.70319198T>C , CM000673.1:g.70319198T>C	GRCh37
NC_000011.8:g.69996846T>C	NCBI36
NG_042866.1:g.656704A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3559A>G	ENSP00000345193.7:p.Lys1187Glu
ENST00000412252.6:c.1104A>G	ENSP00000414876.2:n.1104A>G
ENST00000601538.6:c.5326A>G MANE Select	ENSP00000469689.2:p.Lys1776Glu
ENST00000654939.1:c.2835A>G
ENST00000656230.1:c.4189A>G	ENSP00000499561.1:p.Lys1397Glu
ENST00000659264.1:c.3616A>G	ENSP00000499270.1:p.Lys1206Glu
ENST00000338508.8:c.3562A>G	ENSP00000345193.6:p.Lys1188Glu
ENST00000357171.7:c.*330A>G	ENSP00000349694.4:n.*330A>G
ENST00000409161.5:c.3538A>G	ENSP00000386491.1:p.Lys1180Glu
ENST00000412252.5:c.1102A>G
ENST00000423696.6:c.4189A>G	ENSP00000394536.2:p.Lys1397Glu
ENST00000424924.5:c.3163A>G	ENSP00000402944.1:p.Lys1055Glu
ENST00000449833.6:c.3562A>G	ENSP00000399423.3:p.Lys1188Glu
ENST00000601538.5:c.5326A>G	ENSP00000469689.2:p.Lys1776Glu
ENST00000606715.3:n.2078A>G
NM_012309.4:c.5326A>G	NP_036441.2:p.Lys1776Glu
NM_133266.4:c.3562A>G	NP_573573.2:p.Lys1188Glu
NR_110766.1:n.1180A>G
XM_005277930.2:c.5326A>G	XP_005277987.1:p.Lys1776Glu
XM_005277932.2:c.4189A>G	XP_005277989.1:p.Lys1397Glu
XM_006718478.2:c.5296A>G	XP_006718541.1:p.Lys1766Glu
XM_011544854.1:c.5338A>G	XP_011543156.1:p.Lys1780Glu
XM_011544855.1:c.5317A>G	XP_011543157.1:p.Lys1773Glu
XM_011544856.1:c.5311A>G	XP_011543158.1:p.Lys1771Glu
XM_011544857.1:c.5290A>G	XP_011543159.1:p.Lys1764Glu
XM_011544859.1:c.4201A>G	XP_011543161.1:p.Lys1401Glu
XM_005277932.3:c.4189A>G	XP_005277989.1:p.Lys1397Glu
XM_017017387.1:c.5326A>G	XP_016872876.1:p.Lys1776Glu
XM_017017388.1:c.5326A>G	XP_016872877.1:p.Lys1776Glu
XM_017017389.1:c.5299A>G	XP_016872878.1:p.Lys1767Glu
XM_017017390.1:c.3616A>G	XP_016872879.1:p.Lys1206Glu
NM_133266.5:c.3562A>G	NP_573573.2:p.Lys1188Glu
NR_110766.2:n.1181A>G
NM_001379226.1:c.4189A>G	NP_001366155.1:p.Lys1397Glu
NM_012309.5:c.5326A>G MANE Select	NP_036441.2:p.Lys1776Glu