Canonical Allele Identifier: CA356147512

Gene: EVC2

Linked Data

• gnomAD v4: 4-5628588-C-A
• MyVariant Identifiers: chr4:g.5630315C>A (hg19) ; chr4:g.5628588C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628588C>A , CM000666.2:g.5628588C>A	GRCh38
NC_000004.11:g.5630315C>A , CM000666.1:g.5630315C>A	GRCh37
NC_000004.10:g.5681216C>A	NCBI36
NG_015821.1:g.85961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1857G>T MANE Select	ENSP00000342144.5:p.Gln619His
ENST00000310917.6:c.1617G>T	ENSP00000311683.2:p.Gln539His
ENST00000344408.9:c.1857G>T	ENSP00000342144.5:p.Gln619His
ENST00000475313.5:c.1617G>T	ENSP00000431981.1:p.Gln539His
ENST00000509670.1:c.*250G>T	ENSP00000423876.1:n.*250G>T
NM_001166136.1:c.1617G>T	NP_001159608.1:p.Gln539His
NM_147127.4:c.1857G>T	NP_667338.3:p.Gln619His
XM_011513392.1:c.1866G>T	XP_011511694.1:p.Gln622His
XM_011513393.1:c.1866G>T	XP_011511695.1:p.Gln622His
XM_011513394.1:c.1626G>T	XP_011511696.1:p.Gln542His
XM_017007736.1:c.1617G>T	XP_016863225.1:p.Gln539His
XM_017007737.1:c.1617G>T	XP_016863226.1:p.Gln539His
XM_017007738.1:c.1857G>T	XP_016863227.1:p.Gln619His
XM_017007739.1:c.177G>T	XP_016863228.1:p.Gln59His
XM_024453893.1:c.177G>T	XP_024309661.1:p.Gln59His
XR_001741141.1:n.1922G>T
NM_147127.5:c.1857G>T MANE Select	NP_667338.3:p.Gln619His
NM_001166136.2:c.1617G>T	NP_001159608.1:p.Gln539His