Canonical Allele Identifier: CA356147501

Gene: EVC2

Linked Data

• dbSNP Id: rs1286284839
• gnomAD v4: 4-5628584-T-C
• MyVariant Identifiers: chr4:g.5630311T>C (hg19) ; chr4:g.5628584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628584T>C , CM000666.2:g.5628584T>C	GRCh38
NC_000004.11:g.5630311T>C , CM000666.1:g.5630311T>C	GRCh37
NC_000004.10:g.5681212T>C	NCBI36
NG_015821.1:g.85965A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1861A>G MANE Select	ENSP00000342144.5:p.Thr621Ala
ENST00000310917.6:c.1621A>G	ENSP00000311683.2:p.Thr541Ala
ENST00000344408.9:c.1861A>G	ENSP00000342144.5:p.Thr621Ala
ENST00000475313.5:c.1621A>G	ENSP00000431981.1:p.Thr541Ala
ENST00000509670.1:c.*254A>G	ENSP00000423876.1:n.*254A>G
NM_001166136.1:c.1621A>G	NP_001159608.1:p.Thr541Ala
NM_147127.4:c.1861A>G	NP_667338.3:p.Thr621Ala
XM_011513392.1:c.1870A>G	XP_011511694.1:p.Thr624Ala
XM_011513393.1:c.1870A>G	XP_011511695.1:p.Thr624Ala
XM_011513394.1:c.1630A>G	XP_011511696.1:p.Thr544Ala
XM_017007736.1:c.1621A>G	XP_016863225.1:p.Thr541Ala
XM_017007737.1:c.1621A>G	XP_016863226.1:p.Thr541Ala
XM_017007738.1:c.1861A>G	XP_016863227.1:p.Thr621Ala
XM_017007739.1:c.181A>G	XP_016863228.1:p.Thr61Ala
XM_024453893.1:c.181A>G	XP_024309661.1:p.Thr61Ala
XR_001741141.1:n.1926A>G
NM_147127.5:c.1861A>G MANE Select	NP_667338.3:p.Thr621Ala
NM_001166136.2:c.1621A>G	NP_001159608.1:p.Thr541Ala