Canonical Allele Identifier: CA381676103

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319305A>G (hg19) ; chr11:g.70473200A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473200A>G , CM000673.2:g.70473200A>G	GRCh38
NC_000011.9:g.70319305A>G , CM000673.1:g.70319305A>G	GRCh37
NC_000011.8:g.69996953A>G	NCBI36
NG_042866.1:g.656597T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3452T>C	ENSP00000345193.7:p.Val1151Ala
ENST00000412252.6:c.997T>C	ENSP00000414876.2:n.997T>C
ENST00000601538.6:c.5219T>C MANE Select	ENSP00000469689.2:p.Val1740Ala
ENST00000654939.1:c.2728T>C
ENST00000656230.1:c.4082T>C	ENSP00000499561.1:p.Val1361Ala
ENST00000659264.1:c.3509T>C	ENSP00000499270.1:p.Val1170Ala
ENST00000338508.8:c.3455T>C	ENSP00000345193.6:p.Val1152Ala
ENST00000357171.7:c.*223T>C	ENSP00000349694.4:n.*223T>C
ENST00000409161.5:c.3431T>C	ENSP00000386491.1:p.Val1144Ala
ENST00000412252.5:c.995T>C
ENST00000423696.6:c.4082T>C	ENSP00000394536.2:p.Val1361Ala
ENST00000424924.5:c.3056T>C	ENSP00000402944.1:p.Val1019Ala
ENST00000449833.6:c.3455T>C	ENSP00000399423.3:p.Val1152Ala
ENST00000601538.5:c.5219T>C	ENSP00000469689.2:p.Val1740Ala
ENST00000606715.3:n.1971T>C
NM_012309.4:c.5219T>C	NP_036441.2:p.Val1740Ala
NM_133266.4:c.3455T>C	NP_573573.2:p.Val1152Ala
NR_110766.1:n.1073T>C
XM_005277930.2:c.5219T>C	XP_005277987.1:p.Val1740Ala
XM_005277932.2:c.4082T>C	XP_005277989.1:p.Val1361Ala
XM_006718478.2:c.5189T>C	XP_006718541.1:p.Val1730Ala
XM_011544854.1:c.5231T>C	XP_011543156.1:p.Val1744Ala
XM_011544855.1:c.5210T>C	XP_011543157.1:p.Val1737Ala
XM_011544856.1:c.5204T>C	XP_011543158.1:p.Val1735Ala
XM_011544857.1:c.5183T>C	XP_011543159.1:p.Val1728Ala
XM_011544859.1:c.4094T>C	XP_011543161.1:p.Val1365Ala
XM_005277932.3:c.4082T>C	XP_005277989.1:p.Val1361Ala
XM_017017387.1:c.5219T>C	XP_016872876.1:p.Val1740Ala
XM_017017388.1:c.5219T>C	XP_016872877.1:p.Val1740Ala
XM_017017389.1:c.5192T>C	XP_016872878.1:p.Val1731Ala
XM_017017390.1:c.3509T>C	XP_016872879.1:p.Val1170Ala
NM_133266.5:c.3455T>C	NP_573573.2:p.Val1152Ala
NR_110766.2:n.1074T>C
NM_001379226.1:c.4082T>C	NP_001366155.1:p.Val1361Ala
NM_012309.5:c.5219T>C MANE Select	NP_036441.2:p.Val1740Ala