Canonical Allele Identifier: CA214637

Gene: SHANK2

Linked Data

• ClinVar Variation Id: 212170
• ClinVar RCV Id: RCV000193590 ; RCV000963946
• dbSNP Id: rs140134890
• ExAC: 11:70319373 C / T
• gnomAD v2: 11-70319373-C-T
• gnomAD v3: 11-70473268-C-T
• gnomAD v4: 11-70473268-C-T
• MyVariant Identifiers: chr11:g.70319373C>T (hg19) ; chr11:g.70473268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473268C>T , CM000673.2:g.70473268C>T	GRCh38
NC_000011.9:g.70319373C>T , CM000673.1:g.70319373C>T	GRCh37
NC_000011.8:g.69997021C>T	NCBI36
NG_042866.1:g.656529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3384G>A	ENSP00000345193.7:p.Met1128Ile
ENST00000412252.6:c.929G>A	ENSP00000414876.2:n.929G>A
ENST00000601538.6:c.5151G>A MANE Select	ENSP00000469689.2:p.Met1717Ile
ENST00000654939.1:c.2660G>A
ENST00000656230.1:c.4014G>A	ENSP00000499561.1:p.Met1338Ile
ENST00000659264.1:c.3441G>A	ENSP00000499270.1:p.Met1147Ile
ENST00000338508.8:c.3387G>A	ENSP00000345193.6:p.Met1129Ile
ENST00000357171.7:c.*155G>A	ENSP00000349694.4:n.*155G>A
ENST00000409161.5:c.3363G>A	ENSP00000386491.1:p.Met1121Ile
ENST00000412252.5:c.927G>A
ENST00000423696.6:c.4014G>A	ENSP00000394536.2:p.Met1338Ile
ENST00000424924.5:c.2988G>A	ENSP00000402944.1:p.Met996Ile
ENST00000449833.6:c.3387G>A	ENSP00000399423.3:p.Met1129Ile
ENST00000601538.5:c.5151G>A	ENSP00000469689.2:p.Met1717Ile
ENST00000606715.3:n.1903G>A
NM_012309.4:c.5151G>A	NP_036441.2:p.Met1717Ile
NM_133266.4:c.3387G>A	NP_573573.2:p.Met1129Ile
NR_110766.1:n.1005G>A
XM_005277930.2:c.5151G>A	XP_005277987.1:p.Met1717Ile
XM_005277932.2:c.4014G>A	XP_005277989.1:p.Met1338Ile
XM_006718478.2:c.5121G>A	XP_006718541.1:p.Met1707Ile
XM_011544854.1:c.5163G>A	XP_011543156.1:p.Met1721Ile
XM_011544855.1:c.5142G>A	XP_011543157.1:p.Met1714Ile
XM_011544856.1:c.5136G>A	XP_011543158.1:p.Met1712Ile
XM_011544857.1:c.5115G>A	XP_011543159.1:p.Met1705Ile
XM_011544859.1:c.4026G>A	XP_011543161.1:p.Met1342Ile
XM_005277932.3:c.4014G>A	XP_005277989.1:p.Met1338Ile
XM_017017387.1:c.5151G>A	XP_016872876.1:p.Met1717Ile
XM_017017388.1:c.5151G>A	XP_016872877.1:p.Met1717Ile
XM_017017389.1:c.5124G>A	XP_016872878.1:p.Met1708Ile
XM_017017390.1:c.3441G>A	XP_016872879.1:p.Met1147Ile
NM_133266.5:c.3387G>A	NP_573573.2:p.Met1129Ile
NR_110766.2:n.1006G>A
NM_001379226.1:c.4014G>A	NP_001366155.1:p.Met1338Ile
NM_012309.5:c.5151G>A MANE Select	NP_036441.2:p.Met1717Ile