Canonical Allele Identifier: CA1981074325

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486057A= , CM000673.2:g.70486057A=	GRCh38
NC_000011.9:g.70332162A= , CM000673.1:g.70332162A=	GRCh37
NC_000011.8:g.70009810A=	NCBI36
NG_042866.1:g.643740T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2469T=	ENSP00000345193.7:p.Pro823=
ENST00000412252.6:c.757+4246T=	ENSP00000414876.2:n.757+4246T=
ENST00000601538.6:c.4236T= MANE Select	ENSP00000469689.2:p.Pro1412=
ENST00000654939.1:c.1664T=
ENST00000656230.1:c.3099T=	ENSP00000499561.1:p.Pro1033=
ENST00000659264.1:c.2526T=	ENSP00000499270.1:p.Pro842=
ENST00000338508.8:c.2472T=	ENSP00000345193.6:p.Pro824=
ENST00000357171.7:c.718+4246T=	ENSP00000349694.4:n.718+4246T=
ENST00000409161.5:c.2448T=	ENSP00000386491.1:p.Pro816=
ENST00000412252.5:c.755+4246T=
ENST00000423696.6:c.3099T=	ENSP00000394536.2:p.Pro1033=
ENST00000424924.5:c.2073T=	ENSP00000402944.1:p.Pro691=
ENST00000449833.6:c.2472T=	ENSP00000399423.3:p.Pro824=
ENST00000601538.5:c.4236T=	ENSP00000469689.2:p.Pro1412=
NM_012309.4:c.4236T=	NP_036441.2:p.Pro1412=
NM_133266.4:c.2472T=	NP_573573.2:p.Pro824=
NR_110766.1:n.833+4246T=
XM_005277930.2:c.4236T=	XP_005277987.1:p.Pro1412=
XM_005277932.2:c.3099T=	XP_005277989.1:p.Pro1033=
XM_006718478.2:c.4206T=	XP_006718541.1:p.Pro1402=
XM_011544854.1:c.4248T=	XP_011543156.1:p.Pro1416=
XM_011544855.1:c.4227T=	XP_011543157.1:p.Pro1409=
XM_011544856.1:c.4221T=	XP_011543158.1:p.Pro1407=
XM_011544857.1:c.4200T=	XP_011543159.1:p.Pro1400=
XM_011544858.1:c.4248T=	XP_011543160.1:p.Pro1416=
XM_011544859.1:c.3111T=	XP_011543161.1:p.Pro1037=
XM_005277932.3:c.3099T=	XP_005277989.1:p.Pro1033=
XM_017017387.1:c.4236T=	XP_016872876.1:p.Pro1412=
XM_017017388.1:c.4236T=	XP_016872877.1:p.Pro1412=
XM_017017389.1:c.4209T=	XP_016872878.1:p.Pro1403=
XM_017017390.1:c.2526T=	XP_016872879.1:p.Pro842=
NM_133266.5:c.2472T=	NP_573573.2:p.Pro824=
NR_110766.2:n.834+4246T=
NM_001379226.1:c.3099T=	NP_001366155.1:p.Pro1033=
NM_012309.5:c.4236T= MANE Select	NP_036441.2:p.Pro1412=