Canonical Allele Identifier: CA356143484

Gene: EVC2

Linked Data

• gnomAD v4: 4-5618598-C-G
• COSMIC: COSM6167395 ; COSM6167396
• MyVariant Identifiers: chr4:g.5620325C>G (hg19) ; chr4:g.5618598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618598C>G , CM000666.2:g.5618598C>G	GRCh38
NC_000004.11:g.5620325C>G , CM000666.1:g.5620325C>G	GRCh37
NC_000004.10:g.5671226C>G	NCBI36
NG_015821.1:g.95951G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2586G>C MANE Select	ENSP00000342144.5:p.Met862Ile
ENST00000310917.6:c.2346G>C	ENSP00000311683.2:p.Met782Ile
ENST00000344408.9:c.2586G>C	ENSP00000342144.5:p.Met862Ile
ENST00000475313.5:c.2346G>C	ENSP00000431981.1:p.Met782Ile
ENST00000509670.1:c.*979G>C	ENSP00000423876.1:n.*979G>C
NM_001166136.1:c.2346G>C	NP_001159608.1:p.Met782Ile
NM_147127.4:c.2586G>C	NP_667338.3:p.Met862Ile
XM_011513392.1:c.2595G>C	XP_011511694.1:p.Met865Ile
XM_011513393.1:c.2595G>C	XP_011511695.1:p.Met865Ile
XM_011513394.1:c.2355G>C	XP_011511696.1:p.Met785Ile
XM_017007736.1:c.2346G>C	XP_016863225.1:p.Met782Ile
XM_017007737.1:c.2346G>C	XP_016863226.1:p.Met782Ile
XM_017007738.1:c.2586G>C	XP_016863227.1:p.Met862Ile
XM_017007739.1:c.906G>C	XP_016863228.1:p.Met302Ile
XM_024453893.1:c.906G>C	XP_024309661.1:p.Met302Ile
XR_001741141.1:n.2651G>C
NM_147127.5:c.2586G>C MANE Select	NP_667338.3:p.Met862Ile
NM_001166136.2:c.2346G>C	NP_001159608.1:p.Met782Ile