Canonical Allele Identifier: CA356143585

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5620365A>T (hg19) ; chr4:g.5618638A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618638A>T , CM000666.2:g.5618638A>T	GRCh38
NC_000004.11:g.5620365A>T , CM000666.1:g.5620365A>T	GRCh37
NC_000004.10:g.5671266A>T	NCBI36
NG_015821.1:g.95911T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2546T>A MANE Select	ENSP00000342144.5:p.Leu849His
ENST00000310917.6:c.2306T>A	ENSP00000311683.2:p.Leu769His
ENST00000344408.9:c.2546T>A	ENSP00000342144.5:p.Leu849His
ENST00000475313.5:c.2306T>A	ENSP00000431981.1:p.Leu769His
ENST00000509670.1:c.*939T>A	ENSP00000423876.1:n.*939T>A
NM_001166136.1:c.2306T>A	NP_001159608.1:p.Leu769His
NM_147127.4:c.2546T>A	NP_667338.3:p.Leu849His
XM_011513392.1:c.2555T>A	XP_011511694.1:p.Leu852His
XM_011513393.1:c.2555T>A	XP_011511695.1:p.Leu852His
XM_011513394.1:c.2315T>A	XP_011511696.1:p.Leu772His
XM_017007736.1:c.2306T>A	XP_016863225.1:p.Leu769His
XM_017007737.1:c.2306T>A	XP_016863226.1:p.Leu769His
XM_017007738.1:c.2546T>A	XP_016863227.1:p.Leu849His
XM_017007739.1:c.866T>A	XP_016863228.1:p.Leu289His
XM_024453893.1:c.866T>A	XP_024309661.1:p.Leu289His
XR_001741141.1:n.2611T>A
NM_147127.5:c.2546T>A MANE Select	NP_667338.3:p.Leu849His
NM_001166136.2:c.2306T>A	NP_001159608.1:p.Leu769His