Canonical Allele Identifier: CA356143567

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5620356C>G (hg19) ; chr4:g.5618629C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618629C>G , CM000666.2:g.5618629C>G	GRCh38
NC_000004.11:g.5620356C>G , CM000666.1:g.5620356C>G	GRCh37
NC_000004.10:g.5671257C>G	NCBI36
NG_015821.1:g.95920G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2555G>C MANE Select	ENSP00000342144.5:p.Arg852Thr
ENST00000310917.6:c.2315G>C	ENSP00000311683.2:p.Arg772Thr
ENST00000344408.9:c.2555G>C	ENSP00000342144.5:p.Arg852Thr
ENST00000475313.5:c.2315G>C	ENSP00000431981.1:p.Arg772Thr
ENST00000509670.1:c.*948G>C	ENSP00000423876.1:n.*948G>C
NM_001166136.1:c.2315G>C	NP_001159608.1:p.Arg772Thr
NM_147127.4:c.2555G>C	NP_667338.3:p.Arg852Thr
XM_011513392.1:c.2564G>C	XP_011511694.1:p.Arg855Thr
XM_011513393.1:c.2564G>C	XP_011511695.1:p.Arg855Thr
XM_011513394.1:c.2324G>C	XP_011511696.1:p.Arg775Thr
XM_017007736.1:c.2315G>C	XP_016863225.1:p.Arg772Thr
XM_017007737.1:c.2315G>C	XP_016863226.1:p.Arg772Thr
XM_017007738.1:c.2555G>C	XP_016863227.1:p.Arg852Thr
XM_017007739.1:c.875G>C	XP_016863228.1:p.Arg292Thr
XM_024453893.1:c.875G>C	XP_024309661.1:p.Arg292Thr
XR_001741141.1:n.2620G>C
NM_147127.5:c.2555G>C MANE Select	NP_667338.3:p.Arg852Thr
NM_001166136.2:c.2315G>C	NP_001159608.1:p.Arg772Thr