Canonical Allele Identifier: CA381683340

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70332160G>T (hg19) ; chr11:g.70486055G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486055G>T , CM000673.2:g.70486055G>T	GRCh38
NC_000011.9:g.70332160G>T , CM000673.1:g.70332160G>T	GRCh37
NC_000011.8:g.70009808G>T	NCBI36
NG_042866.1:g.643742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2471C>A	ENSP00000345193.7:p.Pro824His
ENST00000412252.6:c.757+4248C>A	ENSP00000414876.2:n.757+4248C>A
ENST00000601538.6:c.4238C>A MANE Select	ENSP00000469689.2:p.Pro1413His
ENST00000654939.1:c.1666C>A
ENST00000656230.1:c.3101C>A	ENSP00000499561.1:p.Pro1034His
ENST00000659264.1:c.2528C>A	ENSP00000499270.1:p.Pro843His
ENST00000338508.8:c.2474C>A	ENSP00000345193.6:p.Pro825His
ENST00000357171.7:c.718+4248C>A	ENSP00000349694.4:n.718+4248C>A
ENST00000409161.5:c.2450C>A	ENSP00000386491.1:p.Pro817His
ENST00000412252.5:c.755+4248C>A
ENST00000423696.6:c.3101C>A	ENSP00000394536.2:p.Pro1034His
ENST00000424924.5:c.2075C>A	ENSP00000402944.1:p.Pro692His
ENST00000449833.6:c.2474C>A	ENSP00000399423.3:p.Pro825His
ENST00000601538.5:c.4238C>A	ENSP00000469689.2:p.Pro1413His
NM_012309.4:c.4238C>A	NP_036441.2:p.Pro1413His
NM_133266.4:c.2474C>A	NP_573573.2:p.Pro825His
NR_110766.1:n.833+4248C>A
XM_005277930.2:c.4238C>A	XP_005277987.1:p.Pro1413His
XM_005277932.2:c.3101C>A	XP_005277989.1:p.Pro1034His
XM_006718478.2:c.4208C>A	XP_006718541.1:p.Pro1403His
XM_011544854.1:c.4250C>A	XP_011543156.1:p.Pro1417His
XM_011544855.1:c.4229C>A	XP_011543157.1:p.Pro1410His
XM_011544856.1:c.4223C>A	XP_011543158.1:p.Pro1408His
XM_011544857.1:c.4202C>A	XP_011543159.1:p.Pro1401His
XM_011544858.1:c.4250C>A	XP_011543160.1:p.Pro1417His
XM_011544859.1:c.3113C>A	XP_011543161.1:p.Pro1038His
XM_005277932.3:c.3101C>A	XP_005277989.1:p.Pro1034His
XM_017017387.1:c.4238C>A	XP_016872876.1:p.Pro1413His
XM_017017388.1:c.4238C>A	XP_016872877.1:p.Pro1413His
XM_017017389.1:c.4211C>A	XP_016872878.1:p.Pro1404His
XM_017017390.1:c.2528C>A	XP_016872879.1:p.Pro843His
NM_133266.5:c.2474C>A	NP_573573.2:p.Pro825His
NR_110766.2:n.834+4248C>A
NM_001379226.1:c.3101C>A	NP_001366155.1:p.Pro1034His
NM_012309.5:c.4238C>A MANE Select	NP_036441.2:p.Pro1413His