Canonical Allele Identifier: CA381683311

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70332154A>C (hg19) ; chr11:g.70486049A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486049A>C , CM000673.2:g.70486049A>C	GRCh38
NC_000011.9:g.70332154A>C , CM000673.1:g.70332154A>C	GRCh37
NC_000011.8:g.70009802A>C	NCBI36
NG_042866.1:g.643748T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2477T>G	ENSP00000345193.7:p.Leu826Arg
ENST00000412252.6:c.757+4254T>G	ENSP00000414876.2:n.757+4254T>G
ENST00000601538.6:c.4244T>G MANE Select	ENSP00000469689.2:p.Leu1415Arg
ENST00000654939.1:c.1672T>G
ENST00000656230.1:c.3107T>G	ENSP00000499561.1:p.Leu1036Arg
ENST00000659264.1:c.2534T>G	ENSP00000499270.1:p.Leu845Arg
ENST00000338508.8:c.2480T>G	ENSP00000345193.6:p.Leu827Arg
ENST00000357171.7:c.718+4254T>G	ENSP00000349694.4:n.718+4254T>G
ENST00000409161.5:c.2456T>G	ENSP00000386491.1:p.Leu819Arg
ENST00000412252.5:c.755+4254T>G
ENST00000423696.6:c.3107T>G	ENSP00000394536.2:p.Leu1036Arg
ENST00000424924.5:c.2081T>G	ENSP00000402944.1:p.Leu694Arg
ENST00000449833.6:c.2480T>G	ENSP00000399423.3:p.Leu827Arg
ENST00000601538.5:c.4244T>G	ENSP00000469689.2:p.Leu1415Arg
NM_012309.4:c.4244T>G	NP_036441.2:p.Leu1415Arg
NM_133266.4:c.2480T>G	NP_573573.2:p.Leu827Arg
NR_110766.1:n.833+4254T>G
XM_005277930.2:c.4244T>G	XP_005277987.1:p.Leu1415Arg
XM_005277932.2:c.3107T>G	XP_005277989.1:p.Leu1036Arg
XM_006718478.2:c.4214T>G	XP_006718541.1:p.Leu1405Arg
XM_011544854.1:c.4256T>G	XP_011543156.1:p.Leu1419Arg
XM_011544855.1:c.4235T>G	XP_011543157.1:p.Leu1412Arg
XM_011544856.1:c.4229T>G	XP_011543158.1:p.Leu1410Arg
XM_011544857.1:c.4208T>G	XP_011543159.1:p.Leu1403Arg
XM_011544858.1:c.4256T>G	XP_011543160.1:p.Leu1419Arg
XM_011544859.1:c.3119T>G	XP_011543161.1:p.Leu1040Arg
XM_005277932.3:c.3107T>G	XP_005277989.1:p.Leu1036Arg
XM_017017387.1:c.4244T>G	XP_016872876.1:p.Leu1415Arg
XM_017017388.1:c.4244T>G	XP_016872877.1:p.Leu1415Arg
XM_017017389.1:c.4217T>G	XP_016872878.1:p.Leu1406Arg
XM_017017390.1:c.2534T>G	XP_016872879.1:p.Leu845Arg
NM_133266.5:c.2480T>G	NP_573573.2:p.Leu827Arg
NR_110766.2:n.834+4254T>G
NM_001379226.1:c.3107T>G	NP_001366155.1:p.Leu1036Arg
NM_012309.5:c.4244T>G MANE Select	NP_036441.2:p.Leu1415Arg