Canonical Allele Identifier: CA475700135

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70332210C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486105C>A , CM000673.2:g.70486105C>A	GRCh38
NC_000011.9:g.70332210C>A , CM000673.1:g.70332210C>A	GRCh37
NC_000011.8:g.70009858C>A	NCBI36
NG_042866.1:g.643692G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2421G>T	ENSP00000345193.7:p.Leu807=
ENST00000412252.6:c.757+4198G>T	ENSP00000414876.2:n.757+4198G>T
ENST00000601538.6:c.4188G>T MANE Select	ENSP00000469689.2:p.Leu1396=
ENST00000654939.1:c.1616G>T
ENST00000656230.1:c.3051G>T	ENSP00000499561.1:p.Leu1017=
ENST00000659264.1:c.2478G>T	ENSP00000499270.1:p.Leu826=
ENST00000338508.8:c.2424G>T	ENSP00000345193.6:p.Leu808=
ENST00000357171.7:c.718+4198G>T	ENSP00000349694.4:n.718+4198G>T
ENST00000409161.5:c.2400G>T	ENSP00000386491.1:p.Leu800=
ENST00000412252.5:c.755+4198G>T
ENST00000423696.6:c.3051G>T	ENSP00000394536.2:p.Leu1017=
ENST00000424924.5:c.2025G>T	ENSP00000402944.1:p.Leu675=
ENST00000449833.6:c.2424G>T	ENSP00000399423.3:p.Leu808=
ENST00000601538.5:c.4188G>T	ENSP00000469689.2:p.Leu1396=
NM_012309.4:c.4188G>T	NP_036441.2:p.Leu1396=
NM_133266.4:c.2424G>T	NP_573573.2:p.Leu808=
NR_110766.1:n.833+4198G>T
XM_005277930.2:c.4188G>T	XP_005277987.1:p.Leu1396=
XM_005277932.2:c.3051G>T	XP_005277989.1:p.Leu1017=
XM_006718478.2:c.4158G>T	XP_006718541.1:p.Leu1386=
XM_011544854.1:c.4200G>T	XP_011543156.1:p.Leu1400=
XM_011544855.1:c.4179G>T	XP_011543157.1:p.Leu1393=
XM_011544856.1:c.4173G>T	XP_011543158.1:p.Leu1391=
XM_011544857.1:c.4152G>T	XP_011543159.1:p.Leu1384=
XM_011544858.1:c.4200G>T	XP_011543160.1:p.Leu1400=
XM_011544859.1:c.3063G>T	XP_011543161.1:p.Leu1021=
XM_005277932.3:c.3051G>T	XP_005277989.1:p.Leu1017=
XM_017017387.1:c.4188G>T	XP_016872876.1:p.Leu1396=
XM_017017388.1:c.4188G>T	XP_016872877.1:p.Leu1396=
XM_017017389.1:c.4161G>T	XP_016872878.1:p.Leu1387=
XM_017017390.1:c.2478G>T	XP_016872879.1:p.Leu826=
NM_133266.5:c.2424G>T	NP_573573.2:p.Leu808=
NR_110766.2:n.834+4198G>T
NM_001379226.1:c.3051G>T	NP_001366155.1:p.Leu1017=
NM_012309.5:c.4188G>T MANE Select	NP_036441.2:p.Leu1396=