Canonical Allele Identifier: CA381683538

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70332185A>G (hg19) ; chr11:g.70486080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486080A>G , CM000673.2:g.70486080A>G	GRCh38
NC_000011.9:g.70332185A>G , CM000673.1:g.70332185A>G	GRCh37
NC_000011.8:g.70009833A>G	NCBI36
NG_042866.1:g.643717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2446T>C	ENSP00000345193.7:p.Phe816Leu
ENST00000412252.6:c.757+4223T>C	ENSP00000414876.2:n.757+4223T>C
ENST00000601538.6:c.4213T>C MANE Select	ENSP00000469689.2:p.Phe1405Leu
ENST00000654939.1:c.1641T>C
ENST00000656230.1:c.3076T>C	ENSP00000499561.1:p.Phe1026Leu
ENST00000659264.1:c.2503T>C	ENSP00000499270.1:p.Phe835Leu
ENST00000338508.8:c.2449T>C	ENSP00000345193.6:p.Phe817Leu
ENST00000357171.7:c.718+4223T>C	ENSP00000349694.4:n.718+4223T>C
ENST00000409161.5:c.2425T>C	ENSP00000386491.1:p.Phe809Leu
ENST00000412252.5:c.755+4223T>C
ENST00000423696.6:c.3076T>C	ENSP00000394536.2:p.Phe1026Leu
ENST00000424924.5:c.2050T>C	ENSP00000402944.1:p.Phe684Leu
ENST00000449833.6:c.2449T>C	ENSP00000399423.3:p.Phe817Leu
ENST00000601538.5:c.4213T>C	ENSP00000469689.2:p.Phe1405Leu
NM_012309.4:c.4213T>C	NP_036441.2:p.Phe1405Leu
NM_133266.4:c.2449T>C	NP_573573.2:p.Phe817Leu
NR_110766.1:n.833+4223T>C
XM_005277930.2:c.4213T>C	XP_005277987.1:p.Phe1405Leu
XM_005277932.2:c.3076T>C	XP_005277989.1:p.Phe1026Leu
XM_006718478.2:c.4183T>C	XP_006718541.1:p.Phe1395Leu
XM_011544854.1:c.4225T>C	XP_011543156.1:p.Phe1409Leu
XM_011544855.1:c.4204T>C	XP_011543157.1:p.Phe1402Leu
XM_011544856.1:c.4198T>C	XP_011543158.1:p.Phe1400Leu
XM_011544857.1:c.4177T>C	XP_011543159.1:p.Phe1393Leu
XM_011544858.1:c.4225T>C	XP_011543160.1:p.Phe1409Leu
XM_011544859.1:c.3088T>C	XP_011543161.1:p.Phe1030Leu
XM_005277932.3:c.3076T>C	XP_005277989.1:p.Phe1026Leu
XM_017017387.1:c.4213T>C	XP_016872876.1:p.Phe1405Leu
XM_017017388.1:c.4213T>C	XP_016872877.1:p.Phe1405Leu
XM_017017389.1:c.4186T>C	XP_016872878.1:p.Phe1396Leu
XM_017017390.1:c.2503T>C	XP_016872879.1:p.Phe835Leu
NM_133266.5:c.2449T>C	NP_573573.2:p.Phe817Leu
NR_110766.2:n.834+4223T>C
NM_001379226.1:c.3076T>C	NP_001366155.1:p.Phe1026Leu
NM_012309.5:c.4213T>C MANE Select	NP_036441.2:p.Phe1405Leu