Canonical Allele Identifier: CA381676862

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319528T>C (hg19) ; chr11:g.70473423T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473423T>C , CM000673.2:g.70473423T>C	GRCh38
NC_000011.9:g.70319528T>C , CM000673.1:g.70319528T>C	GRCh37
NC_000011.8:g.69997176T>C	NCBI36
NG_042866.1:g.656374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3229A>G	ENSP00000345193.7:p.Ser1077Gly
ENST00000412252.6:c.774A>G	ENSP00000414876.2:p.Ter258Trp
ENST00000601538.6:c.4996A>G MANE Select	ENSP00000469689.2:p.Ser1666Gly
ENST00000654939.1:c.2505A>G
ENST00000656230.1:c.3859A>G	ENSP00000499561.1:p.Ser1287Gly
ENST00000659264.1:c.3286A>G	ENSP00000499270.1:p.Ser1096Gly
ENST00000338508.8:c.3232A>G	ENSP00000345193.6:p.Ser1078Gly
ENST00000357171.7:c.735A>G	ENSP00000349694.4:p.Ter245Trp
ENST00000409161.5:c.3208A>G	ENSP00000386491.1:p.Ser1070Gly
ENST00000412252.5:c.772A>G
ENST00000423696.6:c.3859A>G	ENSP00000394536.2:p.Ser1287Gly
ENST00000424924.5:c.2833A>G	ENSP00000402944.1:p.Ser945Gly
ENST00000449833.6:c.3232A>G	ENSP00000399423.3:p.Ser1078Gly
ENST00000601538.5:c.4996A>G	ENSP00000469689.2:p.Ser1666Gly
ENST00000606715.3:n.1748A>G
NM_012309.4:c.4996A>G	NP_036441.2:p.Ser1666Gly
NM_133266.4:c.3232A>G	NP_573573.2:p.Ser1078Gly
NR_110766.1:n.850A>G
XM_005277930.2:c.4996A>G	XP_005277987.1:p.Ser1666Gly
XM_005277932.2:c.3859A>G	XP_005277989.1:p.Ser1287Gly
XM_006718478.2:c.4966A>G	XP_006718541.1:p.Ser1656Gly
XM_011544854.1:c.5008A>G	XP_011543156.1:p.Ser1670Gly
XM_011544855.1:c.4987A>G	XP_011543157.1:p.Ser1663Gly
XM_011544856.1:c.4981A>G	XP_011543158.1:p.Ser1661Gly
XM_011544857.1:c.4960A>G	XP_011543159.1:p.Ser1654Gly
XM_011544859.1:c.3871A>G	XP_011543161.1:p.Ser1291Gly
XM_005277932.3:c.3859A>G	XP_005277989.1:p.Ser1287Gly
XM_017017387.1:c.4996A>G	XP_016872876.1:p.Ser1666Gly
XM_017017388.1:c.4996A>G	XP_016872877.1:p.Ser1666Gly
XM_017017389.1:c.4969A>G	XP_016872878.1:p.Ser1657Gly
XM_017017390.1:c.3286A>G	XP_016872879.1:p.Ser1096Gly
NM_133266.5:c.3232A>G	NP_573573.2:p.Ser1078Gly
NR_110766.2:n.851A>G
NM_001379226.1:c.3859A>G	NP_001366155.1:p.Ser1287Gly
NM_012309.5:c.4996A>G MANE Select	NP_036441.2:p.Ser1666Gly