Canonical Allele Identifier: CA214628

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486994G>A , CM000673.2:g.70486994G>A	GRCh38
NC_000011.9:g.70333099G>A , CM000673.1:g.70333099G>A	GRCh37
NC_000011.8:g.70010747G>A	NCBI36
NG_042866.1:g.642803C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.1532C>T	ENSP00000345193.7:p.Pro511Leu
ENST00000412252.6:c.757+3309C>T	ENSP00000414876.2:n.757+3309C>T
ENST00000601538.6:c.3299C>T MANE Select	ENSP00000469689.2:p.Pro1100Leu
ENST00000654939.1:c.727C>T
ENST00000656230.1:c.2162C>T	ENSP00000499561.1:p.Pro721Leu
ENST00000659264.1:c.1589C>T	ENSP00000499270.1:p.Pro530Leu
ENST00000338508.8:c.1535C>T	ENSP00000345193.6:p.Pro512Leu
ENST00000357171.7:c.718+3309C>T	ENSP00000349694.4:n.718+3309C>T
ENST00000409161.5:c.1511C>T	ENSP00000386491.1:p.Pro504Leu
ENST00000412252.5:c.755+3309C>T
ENST00000423696.6:c.2162C>T	ENSP00000394536.2:p.Pro721Leu
ENST00000424924.5:c.1136C>T	ENSP00000402944.1:p.Pro379Leu
ENST00000449833.6:c.1535C>T	ENSP00000399423.3:p.Pro512Leu
ENST00000601538.5:c.3299C>T	ENSP00000469689.2:p.Pro1100Leu
NM_012309.4:c.3299C>T	NP_036441.2:p.Pro1100Leu
NM_133266.4:c.1535C>T	NP_573573.2:p.Pro512Leu
NR_110766.1:n.833+3309C>T
XM_005277930.2:c.3299C>T	XP_005277987.1:p.Pro1100Leu
XM_005277932.2:c.2162C>T	XP_005277989.1:p.Pro721Leu
XM_006718478.2:c.3269C>T	XP_006718541.1:p.Pro1090Leu
XM_011544854.1:c.3311C>T	XP_011543156.1:p.Pro1104Leu
XM_011544855.1:c.3290C>T	XP_011543157.1:p.Pro1097Leu
XM_011544856.1:c.3284C>T	XP_011543158.1:p.Pro1095Leu
XM_011544857.1:c.3263C>T	XP_011543159.1:p.Pro1088Leu
XM_011544858.1:c.3311C>T	XP_011543160.1:p.Pro1104Leu
XM_011544859.1:c.2174C>T	XP_011543161.1:p.Pro725Leu
XM_005277932.3:c.2162C>T	XP_005277989.1:p.Pro721Leu
XM_017017387.1:c.3299C>T	XP_016872876.1:p.Pro1100Leu
XM_017017388.1:c.3299C>T	XP_016872877.1:p.Pro1100Leu
XM_017017389.1:c.3272C>T	XP_016872878.1:p.Pro1091Leu
XM_017017390.1:c.1589C>T	XP_016872879.1:p.Pro530Leu
NM_133266.5:c.1535C>T	NP_573573.2:p.Pro512Leu
NR_110766.2:n.834+3309C>T
NM_001379226.1:c.2162C>T	NP_001366155.1:p.Pro721Leu
NM_012309.5:c.3299C>T MANE Select	NP_036441.2:p.Pro1100Leu