Canonical Allele Identifier: CA2580585938

Gene: GCFC2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.75699439T>A , CM000664.2:g.75699439T>A	GRCh38
NC_000002.11:g.75926565T>A , CM000664.1:g.75926565T>A	GRCh37
NC_000002.10:g.75780073T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321027.8:c.717+1751A>T MANE Select	ENSP00000318690.3:n.717+1751A>T
ENST00000321027.7:c.717+1751A>T	ENSP00000318690.3:n.717+1751A>T
ENST00000409857.7:c.603+1751A>T	ENSP00000386552.3:n.603+1751A>T
ENST00000442309.5:c.492+1751A>T	ENSP00000415831.1:n.492+1751A>T
ENST00000470197.5:n.183+1751A>T
ENST00000472230.5:c.615+1751A>T	ENSP00000474136.1:n.615+1751A>T
ENST00000541687.5:c.717+1751A>T	ENSP00000437767.1:n.717+1751A>T
NM_001201334.1:c.210+1751A>T	NP_001188263.1:n.210+1751A>T
NM_003203.4:c.717+1751A>T	NP_003194.3:n.717+1751A>T
XM_005264520.2:c.741+1751A>T	XP_005264577.1:n.741+1751A>T
XM_011533074.1:c.492+1751A>T	XP_011531376.1:n.492+1751A>T
XM_011533075.1:c.741+1751A>T	XP_011531377.1:n.741+1751A>T
XR_426995.2:n.872+1751A>T
XM_005264520.4:c.741+1751A>T	XP_005264577.1:n.741+1751A>T
XM_011533074.3:c.492+1751A>T	XP_011531376.1:n.492+1751A>T
XM_011533075.2:c.741+1751A>T	XP_011531377.1:n.741+1751A>T
XM_017004787.2:c.741+1751A>T	XP_016860276.1:n.741+1751A>T
XR_001738916.2:n.1500+1751A>T
XR_002959327.1:n.1504+1751A>T
XR_426995.3:n.850+1751A>T
NM_001201334.2:c.210+1751A>T	NP_001188263.1:n.210+1751A>T
NM_003203.5:c.717+1751A>T MANE Select	NP_003194.3:n.717+1751A>T