Canonical Allele Identifier: CA10612013

Gene: PAX8

Linked Data

• ClinVar Variation Id: 330861
• ClinVar RCV Id: RCV000300927
• dbSNP Id: rs895412
• gnomAD v2: 2-113973964-T-C
• gnomAD v3: 2-113216387-T-C
• gnomAD v4: 2-113216387-T-C
• MyVariant Identifiers: chr2:g.113973964T>C (hg19) ; chr2:g.113216387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113216387T>C , CM000664.2:g.113216387T>C	GRCh38
NC_000002.11:g.113973964T>C , CM000664.1:g.113973964T>C	GRCh37
NC_000002.10:g.113690435T>C	NCBI36
NG_012384.1:g.67535A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000429538.8:c.*2146A>G MANE Select	ENSP00000395498.3:n.*2146A>G
ENST00000681162.1:c.*2118A>G	ENSP00000505425.1:n.*2118A>G
ENST00000263334.9:c.*2146A>G	ENSP00000263334.6:n.*2146A>G
ENST00000263335.11:c.*2223A>G	ENSP00000263335.7:n.*2223A>G
ENST00000348715.9:c.*2223A>G	ENSP00000314750.5:n.*2223A>G
ENST00000397647.7:c.*2223A>G	ENSP00000380768.3:n.*2223A>G
ENST00000429538.7:c.*2146A>G	ENSP00000395498.3:n.*2146A>G
NM_003466.3:c.*2146A>G	NP_003457.1:n.*2146A>G
NM_013952.3:c.*2223A>G	NP_039246.1:n.*2223A>G
NM_013953.3:c.*2223A>G	NP_039247.1:n.*2223A>G
NM_013992.3:c.*2223A>G	NP_054698.1:n.*2223A>G
XM_011511790.1:c.*2146A>G	XP_011510092.1:n.*2146A>G
XM_011511791.1:c.*2223A>G	XP_011510093.1:n.*2223A>G
XM_011511792.1:c.*2223A>G	XP_011510094.1:n.*2223A>G
XM_011511793.1:c.*2146A>G	XP_011510095.1:n.*2146A>G
XM_011511794.1:c.*2146A>G	XP_011510096.1:n.*2146A>G
XR_923021.1:n.3674A>G
NM_003466.4:c.*2146A>G MANE Select	NP_003457.1:n.*2146A>G
NM_013952.4:c.*2223A>G	NP_039246.1:n.*2223A>G
NM_013953.4:c.*2223A>G	NP_039247.1:n.*2223A>G
NM_013992.4:c.*2223A>G	NP_054698.1:n.*2223A>G