Canonical Allele Identifier: CA475700141

Gene: SHANK2

Linked Data

• dbSNP Id: rs2058799893
• COSMIC: COSM4480410 ; COSM4480411 ; COSM4480412
• MyVariant Identifiers: chr11:g.70332216G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486111G>A , CM000673.2:g.70486111G>A	GRCh38
NC_000011.9:g.70332216G>A , CM000673.1:g.70332216G>A	GRCh37
NC_000011.8:g.70009864G>A	NCBI36
NG_042866.1:g.643686C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338508.9:c.2415C>T	ENSP00000345193.7:p.Pro805=
ENST00000412252.6:c.757+4192C>T	ENSP00000414876.2:n.757+4192C>T
ENST00000601538.6:c.4182C>T MANE Select	ENSP00000469689.2:p.Pro1394=
ENST00000654939.1:c.1610C>T
ENST00000656230.1:c.3045C>T	ENSP00000499561.1:p.Pro1015=
ENST00000659264.1:c.2472C>T	ENSP00000499270.1:p.Pro824=
ENST00000338508.8:c.2418C>T	ENSP00000345193.6:p.Pro806=
ENST00000357171.7:c.718+4192C>T	ENSP00000349694.4:n.718+4192C>T
ENST00000409161.5:c.2394C>T	ENSP00000386491.1:p.Pro798=
ENST00000412252.5:c.755+4192C>T
ENST00000423696.6:c.3045C>T	ENSP00000394536.2:p.Pro1015=
ENST00000424924.5:c.2019C>T	ENSP00000402944.1:p.Pro673=
ENST00000449833.6:c.2418C>T	ENSP00000399423.3:p.Pro806=
ENST00000601538.5:c.4182C>T	ENSP00000469689.2:p.Pro1394=
NM_012309.4:c.4182C>T	NP_036441.2:p.Pro1394=
NM_133266.4:c.2418C>T	NP_573573.2:p.Pro806=
NR_110766.1:n.833+4192C>T
XM_005277930.2:c.4182C>T	XP_005277987.1:p.Pro1394=
XM_005277932.2:c.3045C>T	XP_005277989.1:p.Pro1015=
XM_006718478.2:c.4152C>T	XP_006718541.1:p.Pro1384=
XM_011544854.1:c.4194C>T	XP_011543156.1:p.Pro1398=
XM_011544855.1:c.4173C>T	XP_011543157.1:p.Pro1391=
XM_011544856.1:c.4167C>T	XP_011543158.1:p.Pro1389=
XM_011544857.1:c.4146C>T	XP_011543159.1:p.Pro1382=
XM_011544858.1:c.4194C>T	XP_011543160.1:p.Pro1398=
XM_011544859.1:c.3057C>T	XP_011543161.1:p.Pro1019=
XM_005277932.3:c.3045C>T	XP_005277989.1:p.Pro1015=
XM_017017387.1:c.4182C>T	XP_016872876.1:p.Pro1394=
XM_017017388.1:c.4182C>T	XP_016872877.1:p.Pro1394=
XM_017017389.1:c.4155C>T	XP_016872878.1:p.Pro1385=
XM_017017390.1:c.2472C>T	XP_016872879.1:p.Pro824=
NM_133266.5:c.2418C>T	NP_573573.2:p.Pro806=
NR_110766.2:n.834+4192C>T
NM_001379226.1:c.3045C>T	NP_001366155.1:p.Pro1015=
NM_012309.5:c.4182C>T MANE Select	NP_036441.2:p.Pro1394=