Canonical Allele Identifier: CA6160737

Gene: SHANK2

Linked Data

• dbSNP Id: rs370834280
• ExAC: 11:70319282 G / C
• gnomAD v2: 11-70319282-G-C
• gnomAD v4: 11-70473177-G-C
• MyVariant Identifiers: chr11:g.70319282G>C (hg19) ; chr11:g.70473177G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473177G>C , CM000673.2:g.70473177G>C	GRCh38
NC_000011.9:g.70319282G>C , CM000673.1:g.70319282G>C	GRCh37
NC_000011.8:g.69996930G>C	NCBI36
NG_042866.1:g.656620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3475C>G	ENSP00000345193.7:p.Pro1159Ala
ENST00000412252.6:c.1020C>G	ENSP00000414876.2:n.1020C>G
ENST00000601538.6:c.5242C>G MANE Select	ENSP00000469689.2:p.Pro1748Ala
ENST00000654939.1:c.2751C>G
ENST00000656230.1:c.4105C>G	ENSP00000499561.1:p.Pro1369Ala
ENST00000659264.1:c.3532C>G	ENSP00000499270.1:p.Pro1178Ala
ENST00000338508.8:c.3478C>G	ENSP00000345193.6:p.Pro1160Ala
ENST00000357171.7:c.*246C>G	ENSP00000349694.4:n.*246C>G
ENST00000409161.5:c.3454C>G	ENSP00000386491.1:p.Pro1152Ala
ENST00000412252.5:c.1018C>G
ENST00000423696.6:c.4105C>G	ENSP00000394536.2:p.Pro1369Ala
ENST00000424924.5:c.3079C>G	ENSP00000402944.1:p.Pro1027Ala
ENST00000449833.6:c.3478C>G	ENSP00000399423.3:p.Pro1160Ala
ENST00000601538.5:c.5242C>G	ENSP00000469689.2:p.Pro1748Ala
ENST00000606715.3:n.1994C>G
NM_012309.4:c.5242C>G	NP_036441.2:p.Pro1748Ala
NM_133266.4:c.3478C>G	NP_573573.2:p.Pro1160Ala
NR_110766.1:n.1096C>G
XM_005277930.2:c.5242C>G	XP_005277987.1:p.Pro1748Ala
XM_005277932.2:c.4105C>G	XP_005277989.1:p.Pro1369Ala
XM_006718478.2:c.5212C>G	XP_006718541.1:p.Pro1738Ala
XM_011544854.1:c.5254C>G	XP_011543156.1:p.Pro1752Ala
XM_011544855.1:c.5233C>G	XP_011543157.1:p.Pro1745Ala
XM_011544856.1:c.5227C>G	XP_011543158.1:p.Pro1743Ala
XM_011544857.1:c.5206C>G	XP_011543159.1:p.Pro1736Ala
XM_011544859.1:c.4117C>G	XP_011543161.1:p.Pro1373Ala
XM_005277932.3:c.4105C>G	XP_005277989.1:p.Pro1369Ala
XM_017017387.1:c.5242C>G	XP_016872876.1:p.Pro1748Ala
XM_017017388.1:c.5242C>G	XP_016872877.1:p.Pro1748Ala
XM_017017389.1:c.5215C>G	XP_016872878.1:p.Pro1739Ala
XM_017017390.1:c.3532C>G	XP_016872879.1:p.Pro1178Ala
NM_133266.5:c.3478C>G	NP_573573.2:p.Pro1160Ala
NR_110766.2:n.1097C>G
NM_001379226.1:c.4105C>G	NP_001366155.1:p.Pro1369Ala
NM_012309.5:c.5242C>G MANE Select	NP_036441.2:p.Pro1748Ala