Canonical Allele Identifier: CA214499

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70485832G>A , CM000673.2:g.70485832G>A	GRCh38
NC_000011.9:g.70331937G>A , CM000673.1:g.70331937G>A	GRCh37
NC_000011.8:g.70009585G>A	NCBI36
NG_042866.1:g.643965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2694C>T	ENSP00000345193.7:p.Ala898=
ENST00000412252.6:c.757+4471C>T	ENSP00000414876.2:n.757+4471C>T
ENST00000601538.6:c.4461C>T MANE Select	ENSP00000469689.2:p.Ala1487=
ENST00000654939.1:c.1889C>T
ENST00000656230.1:c.3324C>T	ENSP00000499561.1:p.Ala1108=
ENST00000659264.1:c.2751C>T	ENSP00000499270.1:p.Ala917=
ENST00000338508.8:c.2697C>T	ENSP00000345193.6:p.Ala899=
ENST00000357171.7:c.718+4471C>T	ENSP00000349694.4:n.718+4471C>T
ENST00000409161.5:c.2673C>T	ENSP00000386491.1:p.Ala891=
ENST00000412252.5:c.755+4471C>T
ENST00000423696.6:c.3324C>T	ENSP00000394536.2:p.Ala1108=
ENST00000424924.5:c.2298C>T	ENSP00000402944.1:p.Ala766=
ENST00000449833.6:c.2697C>T	ENSP00000399423.3:p.Ala899=
ENST00000601538.5:c.4461C>T	ENSP00000469689.2:p.Ala1487=
NM_012309.4:c.4461C>T	NP_036441.2:p.Ala1487=
NM_133266.4:c.2697C>T	NP_573573.2:p.Ala899=
NR_110766.1:n.833+4471C>T
XM_005277930.2:c.4461C>T	XP_005277987.1:p.Ala1487=
XM_005277932.2:c.3324C>T	XP_005277989.1:p.Ala1108=
XM_006718478.2:c.4431C>T	XP_006718541.1:p.Ala1477=
XM_011544854.1:c.4473C>T	XP_011543156.1:p.Ala1491=
XM_011544855.1:c.4452C>T	XP_011543157.1:p.Ala1484=
XM_011544856.1:c.4446C>T	XP_011543158.1:p.Ala1482=
XM_011544857.1:c.4425C>T	XP_011543159.1:p.Ala1475=
XM_011544858.1:c.4473C>T	XP_011543160.1:p.Ala1491=
XM_011544859.1:c.3336C>T	XP_011543161.1:p.Ala1112=
XM_005277932.3:c.3324C>T	XP_005277989.1:p.Ala1108=
XM_017017387.1:c.4461C>T	XP_016872876.1:p.Ala1487=
XM_017017388.1:c.4461C>T	XP_016872877.1:p.Ala1487=
XM_017017389.1:c.4434C>T	XP_016872878.1:p.Ala1478=
XM_017017390.1:c.2751C>T	XP_016872879.1:p.Ala917=
NM_133266.5:c.2697C>T	NP_573573.2:p.Ala899=
NR_110766.2:n.834+4471C>T
NM_001379226.1:c.3324C>T	NP_001366155.1:p.Ala1108=
NM_012309.5:c.4461C>T MANE Select	NP_036441.2:p.Ala1487=