Canonical Allele Identifier: CA356151133

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5640513C>G , CM000666.2:g.5640513C>G	GRCh38
NC_000004.11:g.5642240C>G , CM000666.1:g.5642240C>G	GRCh37
NC_000004.10:g.5693141C>G	NCBI36
NG_015821.1:g.74036G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.1470+1G>C MANE Select	NP_667338.3:n.1470+1G>C
ENST00000344408.10:c.1470+1G>C MANE Select	ENSP00000342144.5:n.1470+1G>C
NM_001166136.1:c.1230+1G>C	NP_001159608.1:n.1230+1G>C
NM_001166136.2:c.1230+1G>C	NP_001159608.1:n.1230+1G>C
NM_147127.4:c.1470+1G>C	NP_667338.3:n.1470+1G>C
ENST00000310917.6:c.1230+1G>C	ENSP00000311683.2:n.1230+1G>C
ENST00000344408.9:c.1470+1G>C	ENSP00000342144.5:n.1470+1G>C
ENST00000475313.5:c.1230+1G>C	ENSP00000431981.1:n.1230+1G>C
ENST00000509670.1:c.1222+9G>C	ENSP00000423876.1:n.1222+9G>C
XM_011513392.1:c.1471G>C	XP_011511694.1:p.Val491Leu
XM_011513393.1:c.1471G>C	XP_011511695.1:p.Val491Leu
XM_011513394.1:c.1231G>C	XP_011511696.1:p.Val411Leu
XM_017007736.1:c.1230+1G>C	XP_016863225.1:n.1230+1G>C
XM_017007737.1:c.1230+1G>C	XP_016863226.1:n.1230+1G>C
XM_017007738.1:c.1470+1G>C	XP_016863227.1:n.1470+1G>C
XM_017007739.1:c.-211+9G>C	XP_016863228.1:n.-211+9G>C
XM_024453893.1:c.-315+9G>C	XP_024309661.1:n.-315+9G>C
XR_001741141.1:n.1535+1G>C