Canonical Allele Identifier: CA6160799

Gene: SHANK2

Linked Data

• dbSNP Id: rs573239356
• ExAC: 11:70319574 C / A
• gnomAD v2: 11-70319574-C-A
• gnomAD v3: 11-70473469-C-A
• gnomAD v4: 11-70473469-C-A
• MyVariant Identifiers: chr11:g.70319574C>A (hg19) ; chr11:g.70473469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473469C>A , CM000673.2:g.70473469C>A	GRCh38
NC_000011.9:g.70319574C>A , CM000673.1:g.70319574C>A	GRCh37
NC_000011.8:g.69997222C>A	NCBI36
NG_042866.1:g.656328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213-30G>T	ENSP00000345193.7:n.3213-30G>T
ENST00000412252.6:c.758-30G>T	ENSP00000414876.2:n.758-30G>T
ENST00000601538.6:c.4980-30G>T MANE Select	ENSP00000469689.2:n.4980-30G>T
ENST00000654939.1:c.2489-30G>T
ENST00000656230.1:c.3843-30G>T	ENSP00000499561.1:n.3843-30G>T
ENST00000659264.1:c.3270-30G>T	ENSP00000499270.1:n.3270-30G>T
ENST00000338508.8:c.3216-30G>T	ENSP00000345193.6:n.3216-30G>T
ENST00000357171.7:c.719-30G>T	ENSP00000349694.4:n.719-30G>T
ENST00000409161.5:c.3192-30G>T	ENSP00000386491.1:n.3192-30G>T
ENST00000412252.5:c.756-30G>T
ENST00000423696.6:c.3843-30G>T	ENSP00000394536.2:n.3843-30G>T
ENST00000424924.5:c.2817-30G>T	ENSP00000402944.1:n.2817-30G>T
ENST00000449833.6:c.3216-30G>T	ENSP00000399423.3:n.3216-30G>T
ENST00000601538.5:c.4980-30G>T	ENSP00000469689.2:n.4980-30G>T
ENST00000606715.3:n.1702G>T
NM_012309.4:c.4980-30G>T	NP_036441.2:n.4980-30G>T
NM_133266.4:c.3216-30G>T	NP_573573.2:n.3216-30G>T
NR_110766.1:n.834-30G>T
XM_005277930.2:c.4980-30G>T	XP_005277987.1:n.4980-30G>T
XM_005277932.2:c.3843-30G>T	XP_005277989.1:n.3843-30G>T
XM_006718478.2:c.4950-30G>T	XP_006718541.1:n.4950-30G>T
XM_011544854.1:c.4992-30G>T	XP_011543156.1:n.4992-30G>T
XM_011544855.1:c.4971-30G>T	XP_011543157.1:n.4971-30G>T
XM_011544856.1:c.4965-30G>T	XP_011543158.1:n.4965-30G>T
XM_011544857.1:c.4944-30G>T	XP_011543159.1:n.4944-30G>T
XM_011544859.1:c.3855-30G>T	XP_011543161.1:n.3855-30G>T
XM_005277932.3:c.3843-30G>T	XP_005277989.1:n.3843-30G>T
XM_017017387.1:c.4980-30G>T	XP_016872876.1:n.4980-30G>T
XM_017017388.1:c.4980-30G>T	XP_016872877.1:n.4980-30G>T
XM_017017389.1:c.4953-30G>T	XP_016872878.1:n.4953-30G>T
XM_017017390.1:c.3270-30G>T	XP_016872879.1:n.3270-30G>T
NM_133266.5:c.3216-30G>T	NP_573573.2:n.3216-30G>T
NR_110766.2:n.835-30G>T
NM_001379226.1:c.3843-30G>T	NP_001366155.1:n.3843-30G>T
NM_012309.5:c.4980-30G>T MANE Select	NP_036441.2:n.4980-30G>T