Canonical Allele Identifier: CA16603416
Gene: GATAD2B HGNC NCBI

Linked Data

ClinVar Variation Id: 391977
ClinVar RCV Id: RCV000441444
dbSNP Id: rs1057524308
MyVariant Identifiers: chr1:g.153788920G>A (hg19) chr1:g.153816444G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153816444G>A , CM000663.2:g.153816444G>A GRCh38
NC_000001.10:g.153788920G>A , CM000663.1:g.153788920G>A GRCh37
NC_000001.9:g.152055544G>A NCBI36
NG_050988.1:g.111532C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703630.1:c.622C>T ENSP00000515408.1:p.Gln208Ter
ENST00000368655.5:c.1045C>T MANE Select ENSP00000357644.4:p.Gln349Ter
ENST00000368655.4:c.1045C>T ENSP00000357644.4:p.Gln349Ter
ENST00000634408.1:c.997C>T ENSP00000489595.1:p.Gln333Ter
ENST00000634544.1:c.1045C>T ENSP00000489184.1:p.Gln349Ter
ENST00000634564.1:c.299C>T
NM_020699.2:c.1045C>T NP_065750.1:p.Gln349Ter
XM_005245364.3:c.1045C>T XP_005245421.1:p.Gln349Ter
XM_006711469.2:c.1045C>T XP_006711532.1:p.Gln349Ter
XM_011509808.1:c.1045C>T XP_011508110.1:p.Gln349Ter
NM_020699.3:c.1045C>T NP_065750.1:p.Gln349Ter
XM_005245364.4:c.1045C>T XP_005245421.1:p.Gln349Ter
XM_024448621.1:c.1045C>T XP_024304389.1:p.Gln349Ter
NM_020699.4:c.1045C>T MANE Select NP_065750.1:p.Gln349Ter
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