Canonical Allele Identifier: CA2669801017

Gene: EVC2

Linked Data

• gnomAD v4: 4-5628608-G-GATTTTATAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628609_5628610insTTTTATAACAA , CM000666.2:g.5628609_5628610insTTTTATAACAA	GRCh38
NC_000004.11:g.5630336_5630337insTTTTATAACAA , CM000666.1:g.5630336_5630337insTTTTATAACAA	GRCh37
NC_000004.10:g.5681237_5681238insTTTTATAACAA	NCBI36
NG_015821.1:g.85940_85941insTGTTATAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1836_1837insTGTTATAAAAT MANE Select	ENSP00000342144.5:p.Leu613CysfsTer5
ENST00000310917.6:c.1596_1597insTGTTATAAAAT	ENSP00000311683.2:p.Leu533CysfsTer5
ENST00000344408.9:c.1836_1837insTGTTATAAAAT	ENSP00000342144.5:p.Leu613CysfsTer5
ENST00000475313.5:c.1596_1597insTGTTATAAAAT	ENSP00000431981.1:p.Leu533CysfsTer5
ENST00000509670.1:c.*229_*230insTGTTATAAAAT	ENSP00000423876.1:n.*229_*230insTGTTATAAAAT
NM_001166136.1:c.1596_1597insTGTTATAAAAT	NP_001159608.1:p.Leu533CysfsTer5
NM_147127.4:c.1836_1837insTGTTATAAAAT	NP_667338.3:p.Leu613CysfsTer5
XM_011513392.1:c.1845_1846insTGTTATAAAAT	XP_011511694.1:p.Leu616CysfsTer5
XM_011513393.1:c.1845_1846insTGTTATAAAAT	XP_011511695.1:p.Leu616CysfsTer5
XM_011513394.1:c.1605_1606insTGTTATAAAAT	XP_011511696.1:p.Leu536CysfsTer5
XM_017007736.1:c.1596_1597insTGTTATAAAAT	XP_016863225.1:p.Leu533CysfsTer5
XM_017007737.1:c.1596_1597insTGTTATAAAAT	XP_016863226.1:p.Leu533CysfsTer5
XM_017007738.1:c.1836_1837insTGTTATAAAAT	XP_016863227.1:p.Leu613CysfsTer5
XM_017007739.1:c.156_157insTGTTATAAAAT	XP_016863228.1:p.Leu53CysfsTer5
XM_024453893.1:c.156_157insTGTTATAAAAT	XP_024309661.1:p.Leu53CysfsTer5
XR_001741141.1:n.1901_1902insTGTTATAAAAT
NM_147127.5:c.1836_1837insTGTTATAAAAT MANE Select	NP_667338.3:p.Leu613CysfsTer5
NM_001166136.2:c.1596_1597insTGTTATAAAAT	NP_001159608.1:p.Leu533CysfsTer5