Canonical Allele Identifier: CA381675834

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473150-G-C
• MyVariant Identifiers: chr11:g.70319255G>C (hg19) ; chr11:g.70473150G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473150G>C , CM000673.2:g.70473150G>C	GRCh38
NC_000011.9:g.70319255G>C , CM000673.1:g.70319255G>C	GRCh37
NC_000011.8:g.69996903G>C	NCBI36
NG_042866.1:g.656647C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3502C>G	ENSP00000345193.7:p.Pro1168Ala
ENST00000412252.6:c.1047C>G	ENSP00000414876.2:n.1047C>G
ENST00000601538.6:c.5269C>G MANE Select	ENSP00000469689.2:p.Pro1757Ala
ENST00000654939.1:c.2778C>G
ENST00000656230.1:c.4132C>G	ENSP00000499561.1:p.Pro1378Ala
ENST00000659264.1:c.3559C>G	ENSP00000499270.1:p.Pro1187Ala
ENST00000338508.8:c.3505C>G	ENSP00000345193.6:p.Pro1169Ala
ENST00000357171.7:c.*273C>G	ENSP00000349694.4:n.*273C>G
ENST00000409161.5:c.3481C>G	ENSP00000386491.1:p.Pro1161Ala
ENST00000412252.5:c.1045C>G
ENST00000423696.6:c.4132C>G	ENSP00000394536.2:p.Pro1378Ala
ENST00000424924.5:c.3106C>G	ENSP00000402944.1:p.Pro1036Ala
ENST00000449833.6:c.3505C>G	ENSP00000399423.3:p.Pro1169Ala
ENST00000601538.5:c.5269C>G	ENSP00000469689.2:p.Pro1757Ala
ENST00000606715.3:n.2021C>G
NM_012309.4:c.5269C>G	NP_036441.2:p.Pro1757Ala
NM_133266.4:c.3505C>G	NP_573573.2:p.Pro1169Ala
NR_110766.1:n.1123C>G
XM_005277930.2:c.5269C>G	XP_005277987.1:p.Pro1757Ala
XM_005277932.2:c.4132C>G	XP_005277989.1:p.Pro1378Ala
XM_006718478.2:c.5239C>G	XP_006718541.1:p.Pro1747Ala
XM_011544854.1:c.5281C>G	XP_011543156.1:p.Pro1761Ala
XM_011544855.1:c.5260C>G	XP_011543157.1:p.Pro1754Ala
XM_011544856.1:c.5254C>G	XP_011543158.1:p.Pro1752Ala
XM_011544857.1:c.5233C>G	XP_011543159.1:p.Pro1745Ala
XM_011544859.1:c.4144C>G	XP_011543161.1:p.Pro1382Ala
XM_005277932.3:c.4132C>G	XP_005277989.1:p.Pro1378Ala
XM_017017387.1:c.5269C>G	XP_016872876.1:p.Pro1757Ala
XM_017017388.1:c.5269C>G	XP_016872877.1:p.Pro1757Ala
XM_017017389.1:c.5242C>G	XP_016872878.1:p.Pro1748Ala
XM_017017390.1:c.3559C>G	XP_016872879.1:p.Pro1187Ala
NM_133266.5:c.3505C>G	NP_573573.2:p.Pro1169Ala
NR_110766.2:n.1124C>G
NM_001379226.1:c.4132C>G	NP_001366155.1:p.Pro1378Ala
NM_012309.5:c.5269C>G MANE Select	NP_036441.2:p.Pro1757Ala