Canonical Allele Identifier: CA381675949

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319275C>G (hg19) ; chr11:g.70473170C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473170C>G , CM000673.2:g.70473170C>G	GRCh38
NC_000011.9:g.70319275C>G , CM000673.1:g.70319275C>G	GRCh37
NC_000011.8:g.69996923C>G	NCBI36
NG_042866.1:g.656627G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3482G>C	ENSP00000345193.7:p.Gly1161Ala
ENST00000412252.6:c.1027G>C	ENSP00000414876.2:n.1027G>C
ENST00000601538.6:c.5249G>C MANE Select	ENSP00000469689.2:p.Gly1750Ala
ENST00000654939.1:c.2758G>C
ENST00000656230.1:c.4112G>C	ENSP00000499561.1:p.Gly1371Ala
ENST00000659264.1:c.3539G>C	ENSP00000499270.1:p.Gly1180Ala
ENST00000338508.8:c.3485G>C	ENSP00000345193.6:p.Gly1162Ala
ENST00000357171.7:c.*253G>C	ENSP00000349694.4:n.*253G>C
ENST00000409161.5:c.3461G>C	ENSP00000386491.1:p.Gly1154Ala
ENST00000412252.5:c.1025G>C
ENST00000423696.6:c.4112G>C	ENSP00000394536.2:p.Gly1371Ala
ENST00000424924.5:c.3086G>C	ENSP00000402944.1:p.Gly1029Ala
ENST00000449833.6:c.3485G>C	ENSP00000399423.3:p.Gly1162Ala
ENST00000601538.5:c.5249G>C	ENSP00000469689.2:p.Gly1750Ala
ENST00000606715.3:n.2001G>C
NM_012309.4:c.5249G>C	NP_036441.2:p.Gly1750Ala
NM_133266.4:c.3485G>C	NP_573573.2:p.Gly1162Ala
NR_110766.1:n.1103G>C
XM_005277930.2:c.5249G>C	XP_005277987.1:p.Gly1750Ala
XM_005277932.2:c.4112G>C	XP_005277989.1:p.Gly1371Ala
XM_006718478.2:c.5219G>C	XP_006718541.1:p.Gly1740Ala
XM_011544854.1:c.5261G>C	XP_011543156.1:p.Gly1754Ala
XM_011544855.1:c.5240G>C	XP_011543157.1:p.Gly1747Ala
XM_011544856.1:c.5234G>C	XP_011543158.1:p.Gly1745Ala
XM_011544857.1:c.5213G>C	XP_011543159.1:p.Gly1738Ala
XM_011544859.1:c.4124G>C	XP_011543161.1:p.Gly1375Ala
XM_005277932.3:c.4112G>C	XP_005277989.1:p.Gly1371Ala
XM_017017387.1:c.5249G>C	XP_016872876.1:p.Gly1750Ala
XM_017017388.1:c.5249G>C	XP_016872877.1:p.Gly1750Ala
XM_017017389.1:c.5222G>C	XP_016872878.1:p.Gly1741Ala
XM_017017390.1:c.3539G>C	XP_016872879.1:p.Gly1180Ala
NM_133266.5:c.3485G>C	NP_573573.2:p.Gly1162Ala
NR_110766.2:n.1104G>C
NM_001379226.1:c.4112G>C	NP_001366155.1:p.Gly1371Ala
NM_012309.5:c.5249G>C MANE Select	NP_036441.2:p.Gly1750Ala