Canonical Allele Identifier: CA214622

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 212169
• ClinVar RCV Id: RCV000192938 ; RCV000914920
• dbSNP Id: rs141040521
• ExAC: 11:70319503 G / A
• gnomAD v2: 11-70319503-G-A
• gnomAD v3: 11-70473398-G-A
• gnomAD v4: 11-70473398-G-A
• MyVariant Identifiers: chr11:g.70319503G>A (hg19) ; chr11:g.70473398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473398G>A , CM000673.2:g.70473398G>A	GRCh38
NC_000011.9:g.70319503G>A , CM000673.1:g.70319503G>A	GRCh37
NC_000011.8:g.69997151G>A	NCBI36
NG_042866.1:g.656399C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338508.9:c.3254C>T	ENSP00000345193.7:p.Thr1085Met
ENST00000412252.6:c.799C>T	ENSP00000414876.2:n.799C>T
ENST00000601538.6:c.5021C>T MANE Select	ENSP00000469689.2:p.Thr1674Met
ENST00000654939.1:c.2530C>T
ENST00000656230.1:c.3884C>T	ENSP00000499561.1:p.Thr1295Met
ENST00000659264.1:c.3311C>T	ENSP00000499270.1:p.Thr1104Met
ENST00000338508.8:c.3257C>T	ENSP00000345193.6:p.Thr1086Met
ENST00000357171.7:c.*25C>T	ENSP00000349694.4:n.*25C>T
ENST00000409161.5:c.3233C>T	ENSP00000386491.1:p.Thr1078Met
ENST00000412252.5:c.797C>T
ENST00000423696.6:c.3884C>T	ENSP00000394536.2:p.Thr1295Met
ENST00000424924.5:c.2858C>T	ENSP00000402944.1:p.Thr953Met
ENST00000449833.6:c.3257C>T	ENSP00000399423.3:p.Thr1086Met
ENST00000601538.5:c.5021C>T	ENSP00000469689.2:p.Thr1674Met
ENST00000606715.3:n.1773C>T
NM_012309.4:c.5021C>T	NP_036441.2:p.Thr1674Met
NM_133266.4:c.3257C>T	NP_573573.2:p.Thr1086Met
NR_110766.1:n.875C>T
XM_005277930.2:c.5021C>T	XP_005277987.1:p.Thr1674Met
XM_005277932.2:c.3884C>T	XP_005277989.1:p.Thr1295Met
XM_006718478.2:c.4991C>T	XP_006718541.1:p.Thr1664Met
XM_011544854.1:c.5033C>T	XP_011543156.1:p.Thr1678Met
XM_011544855.1:c.5012C>T	XP_011543157.1:p.Thr1671Met
XM_011544856.1:c.5006C>T	XP_011543158.1:p.Thr1669Met
XM_011544857.1:c.4985C>T	XP_011543159.1:p.Thr1662Met
XM_011544859.1:c.3896C>T	XP_011543161.1:p.Thr1299Met
XM_005277932.3:c.3884C>T	XP_005277989.1:p.Thr1295Met
XM_017017387.1:c.5021C>T	XP_016872876.1:p.Thr1674Met
XM_017017388.1:c.5021C>T	XP_016872877.1:p.Thr1674Met
XM_017017389.1:c.4994C>T	XP_016872878.1:p.Thr1665Met
XM_017017390.1:c.3311C>T	XP_016872879.1:p.Thr1104Met
NM_133266.5:c.3257C>T	NP_573573.2:p.Thr1086Met
NR_110766.2:n.876C>T
NM_001379226.1:c.3884C>T	NP_001366155.1:p.Thr1295Met
NM_012309.5:c.5021C>T MANE Select	NP_036441.2:p.Thr1674Met