Canonical Allele Identifier: CA939299265

Gene: SHANK2

Linked Data

• dbSNP Id: rs2058624245
• gnomAD v3: 11-70473493-A-C
• gnomAD v4: 11-70473493-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473493A>C , CM000673.2:g.70473493A>C	GRCh38
NC_000011.9:g.70319598A>C , CM000673.1:g.70319598A>C	GRCh37
NC_000011.8:g.69997246A>C	NCBI36
NG_042866.1:g.656304T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213-54T>G	ENSP00000345193.7:n.3213-54T>G
ENST00000412252.6:c.758-54T>G	ENSP00000414876.2:n.758-54T>G
ENST00000601538.6:c.4980-54T>G MANE Select	ENSP00000469689.2:n.4980-54T>G
ENST00000654939.1:c.2489-54T>G
ENST00000656230.1:c.3843-54T>G	ENSP00000499561.1:n.3843-54T>G
ENST00000659264.1:c.3270-54T>G	ENSP00000499270.1:n.3270-54T>G
ENST00000338508.8:c.3216-54T>G	ENSP00000345193.6:n.3216-54T>G
ENST00000357171.7:c.719-54T>G	ENSP00000349694.4:n.719-54T>G
ENST00000409161.5:c.3192-54T>G	ENSP00000386491.1:n.3192-54T>G
ENST00000412252.5:c.756-54T>G
ENST00000423696.6:c.3843-54T>G	ENSP00000394536.2:n.3843-54T>G
ENST00000424924.5:c.2817-54T>G	ENSP00000402944.1:n.2817-54T>G
ENST00000449833.6:c.3216-54T>G	ENSP00000399423.3:n.3216-54T>G
ENST00000601538.5:c.4980-54T>G	ENSP00000469689.2:n.4980-54T>G
ENST00000606715.3:n.1678T>G
NM_012309.4:c.4980-54T>G	NP_036441.2:n.4980-54T>G
NM_133266.4:c.3216-54T>G	NP_573573.2:n.3216-54T>G
NR_110766.1:n.834-54T>G
XM_005277930.2:c.4980-54T>G	XP_005277987.1:n.4980-54T>G
XM_005277932.2:c.3843-54T>G	XP_005277989.1:n.3843-54T>G
XM_006718478.2:c.4950-54T>G	XP_006718541.1:n.4950-54T>G
XM_011544854.1:c.4992-54T>G	XP_011543156.1:n.4992-54T>G
XM_011544855.1:c.4971-54T>G	XP_011543157.1:n.4971-54T>G
XM_011544856.1:c.4965-54T>G	XP_011543158.1:n.4965-54T>G
XM_011544857.1:c.4944-54T>G	XP_011543159.1:n.4944-54T>G
XM_011544859.1:c.3855-54T>G	XP_011543161.1:n.3855-54T>G
XM_005277932.3:c.3843-54T>G	XP_005277989.1:n.3843-54T>G
XM_017017387.1:c.4980-54T>G	XP_016872876.1:n.4980-54T>G
XM_017017388.1:c.4980-54T>G	XP_016872877.1:n.4980-54T>G
XM_017017389.1:c.4953-54T>G	XP_016872878.1:n.4953-54T>G
XM_017017390.1:c.3270-54T>G	XP_016872879.1:n.3270-54T>G
NM_133266.5:c.3216-54T>G	NP_573573.2:n.3216-54T>G
NR_110766.2:n.835-54T>G
NM_001379226.1:c.3843-54T>G	NP_001366155.1:n.3843-54T>G
NM_012309.5:c.4980-54T>G MANE Select	NP_036441.2:n.4980-54T>G