Canonical Allele Identifier: CA356146356

Gene: EVC2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5562916C>G , CM000666.2:g.5562916C>G	GRCh38
NC_000004.11:g.5564643C>G , CM000666.1:g.5564643C>G	GRCh37
NC_000004.10:g.5615544C>G	NCBI36
NG_015821.1:g.151633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3859G>C MANE Select	ENSP00000342144.5:p.Val1287Leu
ENST00000310917.6:c.3619G>C	ENSP00000311683.2:p.Val1207Leu
ENST00000344408.9:c.3859G>C	ENSP00000342144.5:p.Val1287Leu
ENST00000475313.5:c.3419+2342G>C	ENSP00000431981.1:n.3419+2342G>C
ENST00000509670.1:c.*2252G>C	ENSP00000423876.1:n.*2252G>C
NM_001166136.1:c.3619G>C	NP_001159608.1:p.Val1207Leu
NM_147127.4:c.3859G>C	NP_667338.3:p.Val1287Leu
XM_011513392.1:c.3868G>C	XP_011511694.1:p.Val1290Leu
XM_011513393.1:c.3668+2342G>C	XP_011511695.1:n.3668+2342G>C
XM_011513394.1:c.3628G>C	XP_011511696.1:p.Val1210Leu
XM_017007736.1:c.3619G>C	XP_016863225.1:p.Val1207Leu
XM_017007737.1:c.3619G>C	XP_016863226.1:p.Val1207Leu
XM_017007739.1:c.2179G>C	XP_016863228.1:p.Val727Leu
XM_024453893.1:c.2179G>C	XP_024309661.1:p.Val727Leu
XR_001741141.1:n.3709G>C
NM_147127.5:c.3859G>C MANE Select	NP_667338.3:p.Val1287Leu
NM_001166136.2:c.3619G>C	NP_001159608.1:p.Val1207Leu