Canonical Allele Identifier: CA2834947

Gene: EVC2

Linked Data

• dbSNP Id: rs562337541
• ExAC: 4:5630441 C / T
• gnomAD v2: 4-5630441-C-T
• gnomAD v3: 4-5628714-C-T
• gnomAD v4: 4-5628714-C-T
• MyVariant Identifiers: chr4:g.5630441C>T (hg19) ; chr4:g.5628714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628714C>T , CM000666.2:g.5628714C>T	GRCh38
NC_000004.11:g.5630441C>T , CM000666.1:g.5630441C>T	GRCh37
NC_000004.10:g.5681342C>T	NCBI36
NG_015821.1:g.85835G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1731G>A MANE Select	ENSP00000342144.5:p.Met577Ile
ENST00000310917.6:c.1491G>A	ENSP00000311683.2:p.Met497Ile
ENST00000344408.9:c.1731G>A	ENSP00000342144.5:p.Met577Ile
ENST00000475313.5:c.1491G>A	ENSP00000431981.1:p.Met497Ile
ENST00000509670.1:c.*124G>A	ENSP00000423876.1:n.*124G>A
NM_001166136.1:c.1491G>A	NP_001159608.1:p.Met497Ile
NM_147127.4:c.1731G>A	NP_667338.3:p.Met577Ile
XM_011513392.1:c.1740G>A	XP_011511694.1:p.Met580Ile
XM_011513393.1:c.1740G>A	XP_011511695.1:p.Met580Ile
XM_011513394.1:c.1500G>A	XP_011511696.1:p.Met500Ile
XM_017007736.1:c.1491G>A	XP_016863225.1:p.Met497Ile
XM_017007737.1:c.1491G>A	XP_016863226.1:p.Met497Ile
XM_017007738.1:c.1731G>A	XP_016863227.1:p.Met577Ile
XM_017007739.1:c.51G>A	XP_016863228.1:p.Met17Ile
XM_024453893.1:c.51G>A	XP_024309661.1:p.Met17Ile
XR_001741141.1:n.1796G>A
NM_147127.5:c.1731G>A MANE Select	NP_667338.3:p.Met577Ile
NM_001166136.2:c.1491G>A	NP_001159608.1:p.Met497Ile