Canonical Allele Identifier: CA315290617
Gene: EYA2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.47015777G>A , CM000682.2:g.47015777G>A GRCh38
NC_000020.10:g.45644416G>A , CM000682.1:g.45644416G>A GRCh37
NC_000020.9:g.45077823G>A NCBI36
NG_011673.1:g.125908G>A
NG_011673.2:g.125908G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327619.10:c.299-404G>A MANE Select ENSP00000333640.5:n.299-404G>A
ENST00000317304.10:c.299-404G>A ENSP00000321590.6:n.299-404G>A
ENST00000327619.9:c.299-404G>A ENSP00000333640.5:n.299-404G>A
ENST00000357410.7:c.299-404G>A ENSP00000349986.3:n.299-404G>A
ENST00000458636.2:c.158-404G>A ENSP00000395427.1:n.158-404G>A
ENST00000497062.6:c.294-471G>A ENSP00000417105.3:n.294-471G>A
ENST00000611592.4:c.299-404G>A ENSP00000483392.1:n.299-404G>A
NM_005244.4:c.299-404G>A NP_005235.3:n.299-404G>A
NM_172110.3:c.299-404G>A NP_742108.2:n.299-404G>A
XM_005260327.1:c.299-404G>A XP_005260384.1:n.299-404G>A
XM_011528687.1:c.299-404G>A XP_011526989.1:n.299-404G>A
XM_005260327.2:c.299-404G>A XP_005260384.1:n.299-404G>A
XM_017027721.2:c.299-404G>A XP_016883210.1:n.299-404G>A
NM_005244.5:c.299-404G>A MANE Select NP_005235.3:n.299-404G>A
NM_172110.4:c.299-404G>A NP_742108.2:n.299-404G>A
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