Canonical Allele Identifier: CA1002040071
Gene: FYB2 HGNC NCBI

Linked Data

dbSNP Id: rs1645916921
gnomAD v3: 1-56777810-T-G
gnomAD v4: 1-56777810-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56777810T>G , CM000663.2:g.56777810T>G GRCh38
NC_000001.10:g.57243483T>G , CM000663.1:g.57243483T>G GRCh37
NC_000001.9:g.57016071T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000343433.7:c.953+9365A>C MANE Select ENSP00000345972.6:n.953+9365A>C
ENST00000343433.6:c.953+9365A>C ENSP00000345972.6:n.953+9365A>C
ENST00000484327.1:n.1359+9365A>C
NM_001004303.4:c.953+9365A>C NP_001004303.3:n.953+9365A>C
XM_005270584.3:c.953+9365A>C XP_005270641.1:n.953+9365A>C
XM_011540898.1:c.953+9365A>C XP_011539200.1:n.953+9365A>C
XM_011540899.1:c.953+9365A>C XP_011539201.1:n.953+9365A>C
XM_011540900.1:c.953+9365A>C XP_011539202.1:n.953+9365A>C
XM_011540901.1:c.953+9365A>C XP_011539203.1:n.953+9365A>C
XM_011540902.1:c.953+9365A>C XP_011539204.1:n.953+9365A>C
XM_011540903.1:c.953+9365A>C XP_011539205.1:n.953+9365A>C
XM_011540905.1:c.953+9365A>C XP_011539207.1:n.953+9365A>C
XM_011540907.1:c.953+9365A>C XP_011539209.1:n.953+9365A>C
XR_946569.1:n.1359+9365A>C
XR_946570.1:n.1359+9365A>C
XR_946571.1:n.1359+9365A>C
XR_946572.1:n.1359+9365A>C
XM_011540900.2:c.953+9365A>C XP_011539202.1:n.953+9365A>C
XM_011540903.2:c.953+9365A>C XP_011539205.1:n.953+9365A>C
XM_011540905.2:c.953+9365A>C XP_011539207.1:n.953+9365A>C
XM_017000544.2:c.563+9365A>C XP_016856033.1:n.563+9365A>C
XM_017000545.1:c.563+9365A>C XP_016856034.1:n.563+9365A>C
XM_017000548.1:c.953+9365A>C XP_016856037.1:n.953+9365A>C
XM_024453853.1:c.953+9365A>C XP_024309621.1:n.953+9365A>C
XR_001737026.1:n.1359+9365A>C
XR_946572.2:n.1359+9365A>C
NM_001004303.5:c.953+9365A>C MANE Select NP_001004303.3:n.953+9365A>C