Canonical Allele Identifier: CA1981067904

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473090G= , CM000673.2:g.70473090G=	GRCh38
NC_000011.9:g.70319195G= , CM000673.1:g.70319195G=	GRCh37
NC_000011.8:g.69996843G=	NCBI36
NG_042866.1:g.656707C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3562C=	ENSP00000345193.7:p.Pro1188=
ENST00000412252.6:c.1107C=	ENSP00000414876.2:n.1107C=
ENST00000601538.6:c.5329C= MANE Select	ENSP00000469689.2:p.Pro1777=
ENST00000654939.1:c.2838C=
ENST00000656230.1:c.4192C=	ENSP00000499561.1:p.Pro1398=
ENST00000659264.1:c.3619C=	ENSP00000499270.1:p.Pro1207=
ENST00000338508.8:c.3565C=	ENSP00000345193.6:p.Pro1189=
ENST00000357171.7:c.*333C=	ENSP00000349694.4:n.*333C=
ENST00000409161.5:c.3541C=	ENSP00000386491.1:p.Pro1181=
ENST00000412252.5:c.1105C=
ENST00000423696.6:c.4192C=	ENSP00000394536.2:p.Pro1398=
ENST00000424924.5:c.3166C=	ENSP00000402944.1:p.Pro1056=
ENST00000449833.6:c.3565C=	ENSP00000399423.3:p.Pro1189=
ENST00000601538.5:c.5329C=	ENSP00000469689.2:p.Pro1777=
ENST00000606715.3:n.2081C=
NM_012309.4:c.5329C=	NP_036441.2:p.Pro1777=
NM_133266.4:c.3565C=	NP_573573.2:p.Pro1189=
NR_110766.1:n.1183C=
XM_005277930.2:c.5329C=	XP_005277987.1:p.Pro1777=
XM_005277932.2:c.4192C=	XP_005277989.1:p.Pro1398=
XM_006718478.2:c.5299C=	XP_006718541.1:p.Pro1767=
XM_011544854.1:c.5341C=	XP_011543156.1:p.Pro1781=
XM_011544855.1:c.5320C=	XP_011543157.1:p.Pro1774=
XM_011544856.1:c.5314C=	XP_011543158.1:p.Pro1772=
XM_011544857.1:c.5293C=	XP_011543159.1:p.Pro1765=
XM_011544859.1:c.4204C=	XP_011543161.1:p.Pro1402=
XM_005277932.3:c.4192C=	XP_005277989.1:p.Pro1398=
XM_017017387.1:c.5329C=	XP_016872876.1:p.Pro1777=
XM_017017388.1:c.5329C=	XP_016872877.1:p.Pro1777=
XM_017017389.1:c.5302C=	XP_016872878.1:p.Pro1768=
XM_017017390.1:c.3619C=	XP_016872879.1:p.Pro1207=
NM_133266.5:c.3565C=	NP_573573.2:p.Pro1189=
NR_110766.2:n.1184C=
NM_001379226.1:c.4192C=	NP_001366155.1:p.Pro1398=
NM_012309.5:c.5329C= MANE Select	NP_036441.2:p.Pro1777=