Canonical Allele Identifier: CA381675429

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319196C>A (hg19) ; chr11:g.70473091C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473091C>A , CM000673.2:g.70473091C>A	GRCh38
NC_000011.9:g.70319196C>A , CM000673.1:g.70319196C>A	GRCh37
NC_000011.8:g.69996844C>A	NCBI36
NG_042866.1:g.656706G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3561G>T	ENSP00000345193.7:p.Lys1187Asn
ENST00000412252.6:c.1106G>T	ENSP00000414876.2:n.1106G>T
ENST00000601538.6:c.5328G>T MANE Select	ENSP00000469689.2:p.Lys1776Asn
ENST00000654939.1:c.2837G>T
ENST00000656230.1:c.4191G>T	ENSP00000499561.1:p.Lys1397Asn
ENST00000659264.1:c.3618G>T	ENSP00000499270.1:p.Lys1206Asn
ENST00000338508.8:c.3564G>T	ENSP00000345193.6:p.Lys1188Asn
ENST00000357171.7:c.*332G>T	ENSP00000349694.4:n.*332G>T
ENST00000409161.5:c.3540G>T	ENSP00000386491.1:p.Lys1180Asn
ENST00000412252.5:c.1104G>T
ENST00000423696.6:c.4191G>T	ENSP00000394536.2:p.Lys1397Asn
ENST00000424924.5:c.3165G>T	ENSP00000402944.1:p.Lys1055Asn
ENST00000449833.6:c.3564G>T	ENSP00000399423.3:p.Lys1188Asn
ENST00000601538.5:c.5328G>T	ENSP00000469689.2:p.Lys1776Asn
ENST00000606715.3:n.2080G>T
NM_012309.4:c.5328G>T	NP_036441.2:p.Lys1776Asn
NM_133266.4:c.3564G>T	NP_573573.2:p.Lys1188Asn
NR_110766.1:n.1182G>T
XM_005277930.2:c.5328G>T	XP_005277987.1:p.Lys1776Asn
XM_005277932.2:c.4191G>T	XP_005277989.1:p.Lys1397Asn
XM_006718478.2:c.5298G>T	XP_006718541.1:p.Lys1766Asn
XM_011544854.1:c.5340G>T	XP_011543156.1:p.Lys1780Asn
XM_011544855.1:c.5319G>T	XP_011543157.1:p.Lys1773Asn
XM_011544856.1:c.5313G>T	XP_011543158.1:p.Lys1771Asn
XM_011544857.1:c.5292G>T	XP_011543159.1:p.Lys1764Asn
XM_011544859.1:c.4203G>T	XP_011543161.1:p.Lys1401Asn
XM_005277932.3:c.4191G>T	XP_005277989.1:p.Lys1397Asn
XM_017017387.1:c.5328G>T	XP_016872876.1:p.Lys1776Asn
XM_017017388.1:c.5328G>T	XP_016872877.1:p.Lys1776Asn
XM_017017389.1:c.5301G>T	XP_016872878.1:p.Lys1767Asn
XM_017017390.1:c.3618G>T	XP_016872879.1:p.Lys1206Asn
NM_133266.5:c.3564G>T	NP_573573.2:p.Lys1188Asn
NR_110766.2:n.1183G>T
NM_001379226.1:c.4191G>T	NP_001366155.1:p.Lys1397Asn
NM_012309.5:c.5328G>T MANE Select	NP_036441.2:p.Lys1776Asn