Canonical Allele Identifier: CA381675395

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319191A>G (hg19) ; chr11:g.70473086A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473086A>G , CM000673.2:g.70473086A>G	GRCh38
NC_000011.9:g.70319191A>G , CM000673.1:g.70319191A>G	GRCh37
NC_000011.8:g.69996839A>G	NCBI36
NG_042866.1:g.656711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3566T>C	ENSP00000345193.7:p.Phe1189Ser
ENST00000412252.6:c.1111T>C	ENSP00000414876.2:n.1111T>C
ENST00000601538.6:c.5333T>C MANE Select	ENSP00000469689.2:p.Phe1778Ser
ENST00000654939.1:c.2842T>C
ENST00000656230.1:c.4196T>C	ENSP00000499561.1:p.Phe1399Ser
ENST00000659264.1:c.3623T>C	ENSP00000499270.1:p.Phe1208Ser
ENST00000338508.8:c.3569T>C	ENSP00000345193.6:p.Phe1190Ser
ENST00000357171.7:c.*337T>C	ENSP00000349694.4:n.*337T>C
ENST00000409161.5:c.3545T>C	ENSP00000386491.1:p.Phe1182Ser
ENST00000412252.5:c.1109T>C
ENST00000423696.6:c.4196T>C	ENSP00000394536.2:p.Phe1399Ser
ENST00000424924.5:c.3170T>C	ENSP00000402944.1:p.Phe1057Ser
ENST00000449833.6:c.3569T>C	ENSP00000399423.3:p.Phe1190Ser
ENST00000601538.5:c.5333T>C	ENSP00000469689.2:p.Phe1778Ser
ENST00000606715.3:n.2085T>C
NM_012309.4:c.5333T>C	NP_036441.2:p.Phe1778Ser
NM_133266.4:c.3569T>C	NP_573573.2:p.Phe1190Ser
NR_110766.1:n.1187T>C
XM_005277930.2:c.5333T>C	XP_005277987.1:p.Phe1778Ser
XM_005277932.2:c.4196T>C	XP_005277989.1:p.Phe1399Ser
XM_006718478.2:c.5303T>C	XP_006718541.1:p.Phe1768Ser
XM_011544854.1:c.5345T>C	XP_011543156.1:p.Phe1782Ser
XM_011544855.1:c.5324T>C	XP_011543157.1:p.Phe1775Ser
XM_011544856.1:c.5318T>C	XP_011543158.1:p.Phe1773Ser
XM_011544857.1:c.5297T>C	XP_011543159.1:p.Phe1766Ser
XM_011544859.1:c.4208T>C	XP_011543161.1:p.Phe1403Ser
XM_005277932.3:c.4196T>C	XP_005277989.1:p.Phe1399Ser
XM_017017387.1:c.5333T>C	XP_016872876.1:p.Phe1778Ser
XM_017017388.1:c.5333T>C	XP_016872877.1:p.Phe1778Ser
XM_017017389.1:c.5306T>C	XP_016872878.1:p.Phe1769Ser
XM_017017390.1:c.3623T>C	XP_016872879.1:p.Phe1208Ser
NM_133266.5:c.3569T>C	NP_573573.2:p.Phe1190Ser
NR_110766.2:n.1188T>C
NM_001379226.1:c.4196T>C	NP_001366155.1:p.Phe1399Ser
NM_012309.5:c.5333T>C MANE Select	NP_036441.2:p.Phe1778Ser