Canonical Allele Identifier: CA91697275

Gene: EVC2

Linked Data

• dbSNP Id: rs748269961
• gnomAD v2: 4-5620401-C-T
• gnomAD v3: 4-5618674-C-T
• gnomAD v4: 4-5618674-C-T
• MyVariant Identifiers: chr4:g.5620401C>T (hg19) ; chr4:g.5618674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618674C>T , CM000666.2:g.5618674C>T	GRCh38
NC_000004.11:g.5620401C>T , CM000666.1:g.5620401C>T	GRCh37
NC_000004.10:g.5671302C>T	NCBI36
NG_015821.1:g.95875G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2510G>A MANE Select	ENSP00000342144.5:p.Cys837Tyr
ENST00000310917.6:c.2270G>A	ENSP00000311683.2:p.Cys757Tyr
ENST00000344408.9:c.2510G>A	ENSP00000342144.5:p.Cys837Tyr
ENST00000475313.5:c.2270G>A	ENSP00000431981.1:p.Cys757Tyr
ENST00000509670.1:c.*903G>A	ENSP00000423876.1:n.*903G>A
NM_001166136.1:c.2270G>A	NP_001159608.1:p.Cys757Tyr
NM_147127.4:c.2510G>A	NP_667338.3:p.Cys837Tyr
XM_011513392.1:c.2519G>A	XP_011511694.1:p.Cys840Tyr
XM_011513393.1:c.2519G>A	XP_011511695.1:p.Cys840Tyr
XM_011513394.1:c.2279G>A	XP_011511696.1:p.Cys760Tyr
XM_017007736.1:c.2270G>A	XP_016863225.1:p.Cys757Tyr
XM_017007737.1:c.2270G>A	XP_016863226.1:p.Cys757Tyr
XM_017007738.1:c.2510G>A	XP_016863227.1:p.Cys837Tyr
XM_017007739.1:c.830G>A	XP_016863228.1:p.Cys277Tyr
XM_024453893.1:c.830G>A	XP_024309661.1:p.Cys277Tyr
XR_001741141.1:n.2575G>A
NM_147127.5:c.2510G>A MANE Select	NP_667338.3:p.Cys837Tyr
NM_001166136.2:c.2270G>A	NP_001159608.1:p.Cys757Tyr