Canonical Allele Identifier: CA223591788

Gene: SHANK2

Linked Data

• dbSNP Id: rs960215116
• gnomAD v2: 11-70319312-A-G
• gnomAD v4: 11-70473207-A-G
• MyVariant Identifiers: chr11:g.70319312A>G (hg19) ; chr11:g.70473207A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473207A>G , CM000673.2:g.70473207A>G	GRCh38
NC_000011.9:g.70319312A>G , CM000673.1:g.70319312A>G	GRCh37
NC_000011.8:g.69996960A>G	NCBI36
NG_042866.1:g.656590T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3445T>C	ENSP00000345193.7:p.Ser1149Pro
ENST00000412252.6:c.990T>C	ENSP00000414876.2:n.990T>C
ENST00000601538.6:c.5212T>C MANE Select	ENSP00000469689.2:p.Ser1738Pro
ENST00000654939.1:c.2721T>C
ENST00000656230.1:c.4075T>C	ENSP00000499561.1:p.Ser1359Pro
ENST00000659264.1:c.3502T>C	ENSP00000499270.1:p.Ser1168Pro
ENST00000338508.8:c.3448T>C	ENSP00000345193.6:p.Ser1150Pro
ENST00000357171.7:c.*216T>C	ENSP00000349694.4:n.*216T>C
ENST00000409161.5:c.3424T>C	ENSP00000386491.1:p.Ser1142Pro
ENST00000412252.5:c.988T>C
ENST00000423696.6:c.4075T>C	ENSP00000394536.2:p.Ser1359Pro
ENST00000424924.5:c.3049T>C	ENSP00000402944.1:p.Ser1017Pro
ENST00000449833.6:c.3448T>C	ENSP00000399423.3:p.Ser1150Pro
ENST00000601538.5:c.5212T>C	ENSP00000469689.2:p.Ser1738Pro
ENST00000606715.3:n.1964T>C
NM_012309.4:c.5212T>C	NP_036441.2:p.Ser1738Pro
NM_133266.4:c.3448T>C	NP_573573.2:p.Ser1150Pro
NR_110766.1:n.1066T>C
XM_005277930.2:c.5212T>C	XP_005277987.1:p.Ser1738Pro
XM_005277932.2:c.4075T>C	XP_005277989.1:p.Ser1359Pro
XM_006718478.2:c.5182T>C	XP_006718541.1:p.Ser1728Pro
XM_011544854.1:c.5224T>C	XP_011543156.1:p.Ser1742Pro
XM_011544855.1:c.5203T>C	XP_011543157.1:p.Ser1735Pro
XM_011544856.1:c.5197T>C	XP_011543158.1:p.Ser1733Pro
XM_011544857.1:c.5176T>C	XP_011543159.1:p.Ser1726Pro
XM_011544859.1:c.4087T>C	XP_011543161.1:p.Ser1363Pro
XM_005277932.3:c.4075T>C	XP_005277989.1:p.Ser1359Pro
XM_017017387.1:c.5212T>C	XP_016872876.1:p.Ser1738Pro
XM_017017388.1:c.5212T>C	XP_016872877.1:p.Ser1738Pro
XM_017017389.1:c.5185T>C	XP_016872878.1:p.Ser1729Pro
XM_017017390.1:c.3502T>C	XP_016872879.1:p.Ser1168Pro
NM_133266.5:c.3448T>C	NP_573573.2:p.Ser1150Pro
NR_110766.2:n.1067T>C
NM_001379226.1:c.4075T>C	NP_001366155.1:p.Ser1359Pro
NM_012309.5:c.5212T>C MANE Select	NP_036441.2:p.Ser1738Pro