Canonical Allele Identifier: CA381676236

Gene: SHANK2

Linked Data

• dbSNP Id: rs1591472476
• MyVariant Identifiers: chr11:g.70319347A>G (hg19) ; chr11:g.70473242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473242A>G , CM000673.2:g.70473242A>G	GRCh38
NC_000011.9:g.70319347A>G , CM000673.1:g.70319347A>G	GRCh37
NC_000011.8:g.69996995A>G	NCBI36
NG_042866.1:g.656555T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3410T>C	ENSP00000345193.7:p.Leu1137Pro
ENST00000412252.6:c.955T>C	ENSP00000414876.2:n.955T>C
ENST00000601538.6:c.5177T>C MANE Select	ENSP00000469689.2:p.Leu1726Pro
ENST00000654939.1:c.2686T>C
ENST00000656230.1:c.4040T>C	ENSP00000499561.1:p.Leu1347Pro
ENST00000659264.1:c.3467T>C	ENSP00000499270.1:p.Leu1156Pro
ENST00000338508.8:c.3413T>C	ENSP00000345193.6:p.Leu1138Pro
ENST00000357171.7:c.*181T>C	ENSP00000349694.4:n.*181T>C
ENST00000409161.5:c.3389T>C	ENSP00000386491.1:p.Leu1130Pro
ENST00000412252.5:c.953T>C
ENST00000423696.6:c.4040T>C	ENSP00000394536.2:p.Leu1347Pro
ENST00000424924.5:c.3014T>C	ENSP00000402944.1:p.Leu1005Pro
ENST00000449833.6:c.3413T>C	ENSP00000399423.3:p.Leu1138Pro
ENST00000601538.5:c.5177T>C	ENSP00000469689.2:p.Leu1726Pro
ENST00000606715.3:n.1929T>C
NM_012309.4:c.5177T>C	NP_036441.2:p.Leu1726Pro
NM_133266.4:c.3413T>C	NP_573573.2:p.Leu1138Pro
NR_110766.1:n.1031T>C
XM_005277930.2:c.5177T>C	XP_005277987.1:p.Leu1726Pro
XM_005277932.2:c.4040T>C	XP_005277989.1:p.Leu1347Pro
XM_006718478.2:c.5147T>C	XP_006718541.1:p.Leu1716Pro
XM_011544854.1:c.5189T>C	XP_011543156.1:p.Leu1730Pro
XM_011544855.1:c.5168T>C	XP_011543157.1:p.Leu1723Pro
XM_011544856.1:c.5162T>C	XP_011543158.1:p.Leu1721Pro
XM_011544857.1:c.5141T>C	XP_011543159.1:p.Leu1714Pro
XM_011544859.1:c.4052T>C	XP_011543161.1:p.Leu1351Pro
XM_005277932.3:c.4040T>C	XP_005277989.1:p.Leu1347Pro
XM_017017387.1:c.5177T>C	XP_016872876.1:p.Leu1726Pro
XM_017017388.1:c.5177T>C	XP_016872877.1:p.Leu1726Pro
XM_017017389.1:c.5150T>C	XP_016872878.1:p.Leu1717Pro
XM_017017390.1:c.3467T>C	XP_016872879.1:p.Leu1156Pro
NM_133266.5:c.3413T>C	NP_573573.2:p.Leu1138Pro
NR_110766.2:n.1032T>C
NM_001379226.1:c.4040T>C	NP_001366155.1:p.Leu1347Pro
NM_012309.5:c.5177T>C MANE Select	NP_036441.2:p.Leu1726Pro