Canonical Allele Identifier: CA438205105

Gene: EVC2

Linked Data

• ClinVar Variation Id: 771586
• ClinVar RCV Id: RCV000950927
• dbSNP Id: rs1172959079
• gnomAD v2: 4-5630366-G-C
• gnomAD v4: 4-5628639-G-C
• COSMIC: COSM4421584 ; COSM4421585
• MyVariant Identifiers: chr4:g.5630366G>C (hg19) ; chr4:g.5628639G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628639G>C , CM000666.2:g.5628639G>C	GRCh38
NC_000004.11:g.5630366G>C , CM000666.1:g.5630366G>C	GRCh37
NC_000004.10:g.5681267G>C	NCBI36
NG_015821.1:g.85910C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1806C>G MANE Select	ENSP00000342144.5:p.Leu602=
ENST00000310917.6:c.1566C>G	ENSP00000311683.2:p.Leu522=
ENST00000344408.9:c.1806C>G	ENSP00000342144.5:p.Leu602=
ENST00000475313.5:c.1566C>G	ENSP00000431981.1:p.Leu522=
ENST00000509670.1:c.*199C>G	ENSP00000423876.1:n.*199C>G
NM_001166136.1:c.1566C>G	NP_001159608.1:p.Leu522=
NM_147127.4:c.1806C>G	NP_667338.3:p.Leu602=
XM_011513392.1:c.1815C>G	XP_011511694.1:p.Leu605=
XM_011513393.1:c.1815C>G	XP_011511695.1:p.Leu605=
XM_011513394.1:c.1575C>G	XP_011511696.1:p.Leu525=
XM_017007736.1:c.1566C>G	XP_016863225.1:p.Leu522=
XM_017007737.1:c.1566C>G	XP_016863226.1:p.Leu522=
XM_017007738.1:c.1806C>G	XP_016863227.1:p.Leu602=
XM_017007739.1:c.126C>G	XP_016863228.1:p.Leu42=
XM_024453893.1:c.126C>G	XP_024309661.1:p.Leu42=
XR_001741141.1:n.1871C>G
NM_147127.5:c.1806C>G MANE Select	NP_667338.3:p.Leu602=
NM_001166136.2:c.1566C>G	NP_001159608.1:p.Leu522=