Canonical Allele Identifier: CA10610635

Gene: PAX8

Linked Data

• ClinVar Variation Id: 330853
• ClinVar RCV Id: RCV000346185
• dbSNP Id: rs2019137
• gnomAD v2: 2-113973632-G-A
• gnomAD v3: 2-113216055-G-A
• gnomAD v4: 2-113216055-G-A
• MyVariant Identifiers: chr2:g.113973632G>A (hg19) ; chr2:g.113216055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.113216055G>A , CM000664.2:g.113216055G>A	GRCh38
NC_000002.11:g.113973632G>A , CM000664.1:g.113973632G>A	GRCh37
NC_000002.10:g.113690103G>A	NCBI36
NG_012384.1:g.67867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000429538.8:c.*2478C>T MANE Select	ENSP00000395498.3:n.*2478C>T
ENST00000681162.1:c.*2450C>T	ENSP00000505425.1:n.*2450C>T
ENST00000263334.9:c.*2478C>T	ENSP00000263334.6:n.*2478C>T
ENST00000263335.11:c.*2555C>T	ENSP00000263335.7:n.*2555C>T
ENST00000348715.9:c.*2555C>T	ENSP00000314750.5:n.*2555C>T
ENST00000397647.7:c.*2555C>T	ENSP00000380768.3:n.*2555C>T
ENST00000429538.7:c.*2478C>T	ENSP00000395498.3:n.*2478C>T
NM_003466.3:c.*2478C>T	NP_003457.1:n.*2478C>T
NM_013952.3:c.*2555C>T	NP_039246.1:n.*2555C>T
NM_013953.3:c.*2555C>T	NP_039247.1:n.*2555C>T
NM_013992.3:c.*2555C>T	NP_054698.1:n.*2555C>T
XM_011511790.1:c.*2478C>T	XP_011510092.1:n.*2478C>T
XM_011511791.1:c.*2555C>T	XP_011510093.1:n.*2555C>T
XM_011511792.1:c.*2555C>T	XP_011510094.1:n.*2555C>T
XM_011511793.1:c.*2478C>T	XP_011510095.1:n.*2478C>T
XM_011511794.1:c.*2478C>T	XP_011510096.1:n.*2478C>T
XR_923021.1:n.4006C>T
NM_003466.4:c.*2478C>T MANE Select	NP_003457.1:n.*2478C>T
NM_013952.4:c.*2555C>T	NP_039246.1:n.*2555C>T
NM_013953.4:c.*2555C>T	NP_039247.1:n.*2555C>T
NM_013992.4:c.*2555C>T	NP_054698.1:n.*2555C>T