Canonical Allele Identifier: CA381676309

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319383G>T (hg19) ; chr11:g.70473278G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473278G>T , CM000673.2:g.70473278G>T	GRCh38
NC_000011.9:g.70319383G>T , CM000673.1:g.70319383G>T	GRCh37
NC_000011.8:g.69997031G>T	NCBI36
NG_042866.1:g.656519C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3374C>A	ENSP00000345193.7:p.Pro1125Gln
ENST00000412252.6:c.919C>A	ENSP00000414876.2:n.919C>A
ENST00000601538.6:c.5141C>A MANE Select	ENSP00000469689.2:p.Pro1714Gln
ENST00000654939.1:c.2650C>A
ENST00000656230.1:c.4004C>A	ENSP00000499561.1:p.Pro1335Gln
ENST00000659264.1:c.3431C>A	ENSP00000499270.1:p.Pro1144Gln
ENST00000338508.8:c.3377C>A	ENSP00000345193.6:p.Pro1126Gln
ENST00000357171.7:c.*145C>A	ENSP00000349694.4:n.*145C>A
ENST00000409161.5:c.3353C>A	ENSP00000386491.1:p.Pro1118Gln
ENST00000412252.5:c.917C>A
ENST00000423696.6:c.4004C>A	ENSP00000394536.2:p.Pro1335Gln
ENST00000424924.5:c.2978C>A	ENSP00000402944.1:p.Pro993Gln
ENST00000449833.6:c.3377C>A	ENSP00000399423.3:p.Pro1126Gln
ENST00000601538.5:c.5141C>A	ENSP00000469689.2:p.Pro1714Gln
ENST00000606715.3:n.1893C>A
NM_012309.4:c.5141C>A	NP_036441.2:p.Pro1714Gln
NM_133266.4:c.3377C>A	NP_573573.2:p.Pro1126Gln
NR_110766.1:n.995C>A
XM_005277930.2:c.5141C>A	XP_005277987.1:p.Pro1714Gln
XM_005277932.2:c.4004C>A	XP_005277989.1:p.Pro1335Gln
XM_006718478.2:c.5111C>A	XP_006718541.1:p.Pro1704Gln
XM_011544854.1:c.5153C>A	XP_011543156.1:p.Pro1718Gln
XM_011544855.1:c.5132C>A	XP_011543157.1:p.Pro1711Gln
XM_011544856.1:c.5126C>A	XP_011543158.1:p.Pro1709Gln
XM_011544857.1:c.5105C>A	XP_011543159.1:p.Pro1702Gln
XM_011544859.1:c.4016C>A	XP_011543161.1:p.Pro1339Gln
XM_005277932.3:c.4004C>A	XP_005277989.1:p.Pro1335Gln
XM_017017387.1:c.5141C>A	XP_016872876.1:p.Pro1714Gln
XM_017017388.1:c.5141C>A	XP_016872877.1:p.Pro1714Gln
XM_017017389.1:c.5114C>A	XP_016872878.1:p.Pro1705Gln
XM_017017390.1:c.3431C>A	XP_016872879.1:p.Pro1144Gln
NM_133266.5:c.3377C>A	NP_573573.2:p.Pro1126Gln
NR_110766.2:n.996C>A
NM_001379226.1:c.4004C>A	NP_001366155.1:p.Pro1335Gln
NM_012309.5:c.5141C>A MANE Select	NP_036441.2:p.Pro1714Gln