Canonical Allele Identifier: CA381676323

Gene: SHANK2

Linked Data

• dbSNP Id: rs1464787858
• gnomAD v4: 11-70473285-C-T
• MyVariant Identifiers: chr11:g.70319390C>T (hg19) ; chr11:g.70473285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473285C>T , CM000673.2:g.70473285C>T	GRCh38
NC_000011.9:g.70319390C>T , CM000673.1:g.70319390C>T	GRCh37
NC_000011.8:g.69997038C>T	NCBI36
NG_042866.1:g.656512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3367G>A	ENSP00000345193.7:p.Val1123Ile
ENST00000412252.6:c.912G>A	ENSP00000414876.2:n.912G>A
ENST00000601538.6:c.5134G>A MANE Select	ENSP00000469689.2:p.Val1712Ile
ENST00000654939.1:c.2643G>A
ENST00000656230.1:c.3997G>A	ENSP00000499561.1:p.Val1333Ile
ENST00000659264.1:c.3424G>A	ENSP00000499270.1:p.Val1142Ile
ENST00000338508.8:c.3370G>A	ENSP00000345193.6:p.Val1124Ile
ENST00000357171.7:c.*138G>A	ENSP00000349694.4:n.*138G>A
ENST00000409161.5:c.3346G>A	ENSP00000386491.1:p.Val1116Ile
ENST00000412252.5:c.910G>A
ENST00000423696.6:c.3997G>A	ENSP00000394536.2:p.Val1333Ile
ENST00000424924.5:c.2971G>A	ENSP00000402944.1:p.Val991Ile
ENST00000449833.6:c.3370G>A	ENSP00000399423.3:p.Val1124Ile
ENST00000601538.5:c.5134G>A	ENSP00000469689.2:p.Val1712Ile
ENST00000606715.3:n.1886G>A
NM_012309.4:c.5134G>A	NP_036441.2:p.Val1712Ile
NM_133266.4:c.3370G>A	NP_573573.2:p.Val1124Ile
NR_110766.1:n.988G>A
XM_005277930.2:c.5134G>A	XP_005277987.1:p.Val1712Ile
XM_005277932.2:c.3997G>A	XP_005277989.1:p.Val1333Ile
XM_006718478.2:c.5104G>A	XP_006718541.1:p.Val1702Ile
XM_011544854.1:c.5146G>A	XP_011543156.1:p.Val1716Ile
XM_011544855.1:c.5125G>A	XP_011543157.1:p.Val1709Ile
XM_011544856.1:c.5119G>A	XP_011543158.1:p.Val1707Ile
XM_011544857.1:c.5098G>A	XP_011543159.1:p.Val1700Ile
XM_011544859.1:c.4009G>A	XP_011543161.1:p.Val1337Ile
XM_005277932.3:c.3997G>A	XP_005277989.1:p.Val1333Ile
XM_017017387.1:c.5134G>A	XP_016872876.1:p.Val1712Ile
XM_017017388.1:c.5134G>A	XP_016872877.1:p.Val1712Ile
XM_017017389.1:c.5107G>A	XP_016872878.1:p.Val1703Ile
XM_017017390.1:c.3424G>A	XP_016872879.1:p.Val1142Ile
NM_133266.5:c.3370G>A	NP_573573.2:p.Val1124Ile
NR_110766.2:n.989G>A
NM_001379226.1:c.3997G>A	NP_001366155.1:p.Val1333Ile
NM_012309.5:c.5134G>A MANE Select	NP_036441.2:p.Val1712Ile