Canonical Allele Identifier: CA6160736

Gene: SHANK2

Linked Data

• dbSNP Id: rs370834280
• ExAC: 11:70319282 G / A
• gnomAD v2: 11-70319282-G-A
• gnomAD v3: 11-70473177-G-A
• gnomAD v4: 11-70473177-G-A
• COSMIC: COSM1666305 ; COSM1666306
• MyVariant Identifiers: chr11:g.70319282G>A (hg19) ; chr11:g.70473177G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3475C>T	ENSP00000345193.7:p.Pro1159Ser
ENST00000412252.6:c.1020C>T	ENSP00000414876.2:n.1020C>T
ENST00000601538.6:c.5242C>T MANE Select	ENSP00000469689.2:p.Pro1748Ser
ENST00000654939.1:c.2751C>T
ENST00000656230.1:c.4105C>T	ENSP00000499561.1:p.Pro1369Ser
ENST00000659264.1:c.3532C>T	ENSP00000499270.1:p.Pro1178Ser
ENST00000338508.8:c.3478C>T	ENSP00000345193.6:p.Pro1160Ser
ENST00000357171.7:c.*246C>T	ENSP00000349694.4:n.*246C>T
ENST00000409161.5:c.3454C>T	ENSP00000386491.1:p.Pro1152Ser
ENST00000412252.5:c.1018C>T
ENST00000423696.6:c.4105C>T	ENSP00000394536.2:p.Pro1369Ser
ENST00000424924.5:c.3079C>T	ENSP00000402944.1:p.Pro1027Ser
ENST00000449833.6:c.3478C>T	ENSP00000399423.3:p.Pro1160Ser
ENST00000601538.5:c.5242C>T	ENSP00000469689.2:p.Pro1748Ser
ENST00000606715.3:n.1994C>T
NM_012309.4:c.5242C>T	NP_036441.2:p.Pro1748Ser
NM_133266.4:c.3478C>T	NP_573573.2:p.Pro1160Ser
NR_110766.1:n.1096C>T
XM_005277930.2:c.5242C>T	XP_005277987.1:p.Pro1748Ser
XM_005277932.2:c.4105C>T	XP_005277989.1:p.Pro1369Ser
XM_006718478.2:c.5212C>T	XP_006718541.1:p.Pro1738Ser
XM_011544854.1:c.5254C>T	XP_011543156.1:p.Pro1752Ser
XM_011544855.1:c.5233C>T	XP_011543157.1:p.Pro1745Ser
XM_011544856.1:c.5227C>T	XP_011543158.1:p.Pro1743Ser
XM_011544857.1:c.5206C>T	XP_011543159.1:p.Pro1736Ser
XM_011544859.1:c.4117C>T	XP_011543161.1:p.Pro1373Ser
XM_005277932.3:c.4105C>T	XP_005277989.1:p.Pro1369Ser
XM_017017387.1:c.5242C>T	XP_016872876.1:p.Pro1748Ser
XM_017017388.1:c.5242C>T	XP_016872877.1:p.Pro1748Ser
XM_017017389.1:c.5215C>T	XP_016872878.1:p.Pro1739Ser
XM_017017390.1:c.3532C>T	XP_016872879.1:p.Pro1178Ser
NM_133266.5:c.3478C>T	NP_573573.2:p.Pro1160Ser
NR_110766.2:n.1097C>T
NM_001379226.1:c.4105C>T	NP_001366155.1:p.Pro1369Ser
NM_012309.5:c.5242C>T MANE Select	NP_036441.2:p.Pro1748Ser