Canonical Allele Identifier: CA381676339

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319398C>T (hg19) ; chr11:g.70473293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473293C>T , CM000673.2:g.70473293C>T	GRCh38
NC_000011.9:g.70319398C>T , CM000673.1:g.70319398C>T	GRCh37
NC_000011.8:g.69997046C>T	NCBI36
NG_042866.1:g.656504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3359G>A	ENSP00000345193.7:p.Ser1120Asn
ENST00000412252.6:c.904G>A	ENSP00000414876.2:n.904G>A
ENST00000601538.6:c.5126G>A MANE Select	ENSP00000469689.2:p.Ser1709Asn
ENST00000654939.1:c.2635G>A
ENST00000656230.1:c.3989G>A	ENSP00000499561.1:p.Ser1330Asn
ENST00000659264.1:c.3416G>A	ENSP00000499270.1:p.Ser1139Asn
ENST00000338508.8:c.3362G>A	ENSP00000345193.6:p.Ser1121Asn
ENST00000357171.7:c.*130G>A	ENSP00000349694.4:n.*130G>A
ENST00000409161.5:c.3338G>A	ENSP00000386491.1:p.Ser1113Asn
ENST00000412252.5:c.902G>A
ENST00000423696.6:c.3989G>A	ENSP00000394536.2:p.Ser1330Asn
ENST00000424924.5:c.2963G>A	ENSP00000402944.1:p.Ser988Asn
ENST00000449833.6:c.3362G>A	ENSP00000399423.3:p.Ser1121Asn
ENST00000601538.5:c.5126G>A	ENSP00000469689.2:p.Ser1709Asn
ENST00000606715.3:n.1878G>A
NM_012309.4:c.5126G>A	NP_036441.2:p.Ser1709Asn
NM_133266.4:c.3362G>A	NP_573573.2:p.Ser1121Asn
NR_110766.1:n.980G>A
XM_005277930.2:c.5126G>A	XP_005277987.1:p.Ser1709Asn
XM_005277932.2:c.3989G>A	XP_005277989.1:p.Ser1330Asn
XM_006718478.2:c.5096G>A	XP_006718541.1:p.Ser1699Asn
XM_011544854.1:c.5138G>A	XP_011543156.1:p.Ser1713Asn
XM_011544855.1:c.5117G>A	XP_011543157.1:p.Ser1706Asn
XM_011544856.1:c.5111G>A	XP_011543158.1:p.Ser1704Asn
XM_011544857.1:c.5090G>A	XP_011543159.1:p.Ser1697Asn
XM_011544859.1:c.4001G>A	XP_011543161.1:p.Ser1334Asn
XM_005277932.3:c.3989G>A	XP_005277989.1:p.Ser1330Asn
XM_017017387.1:c.5126G>A	XP_016872876.1:p.Ser1709Asn
XM_017017388.1:c.5126G>A	XP_016872877.1:p.Ser1709Asn
XM_017017389.1:c.5099G>A	XP_016872878.1:p.Ser1700Asn
XM_017017390.1:c.3416G>A	XP_016872879.1:p.Ser1139Asn
NM_133266.5:c.3362G>A	NP_573573.2:p.Ser1121Asn
NR_110766.2:n.981G>A
NM_001379226.1:c.3989G>A	NP_001366155.1:p.Ser1330Asn
NM_012309.5:c.5126G>A MANE Select	NP_036441.2:p.Ser1709Asn