Canonical Allele Identifier: CA279254

Gene: MROH2A

Linked Data

• ClinVar Variation Id: 208942
• ClinVar RCV Id: RCV000201413
• dbSNP Id: rs863223391
• gnomAD v2: 2-234723301-A-AGG
• gnomAD v3: 2-233814655-A-AGG
• gnomAD v4: 2-233814655-A-AGG
• MyVariant Identifiers: chr2:g.234723302_234723303insGG (hg19) ; chr2:g.234723301_234723302insGG (hg19) ; chr2:g.233814656_233814657insGG (hg38) ; chr2:g.233814655_233814656insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233814658_233814659dup , CM000664.2:g.233814658_233814659dup	GRCh38
NC_000002.11:g.234723304_234723305dup , CM000664.1:g.234723304_234723305dup	GRCh37
NC_000002.10:g.234388043_234388044dup	NCBI36
NG_051337.1:g.43997_43998dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389758.4:c.2837_2838dup MANE Select	ENSP00000374408.3:p.Leu947GlyfsTer25
ENST00000389758.3:c.2837_2838dup	ENSP00000374408.3:p.Leu947GlyfsTer25
ENST00000610772.4:c.2846_2847dup	ENSP00000477597.1:p.Leu950GlyfsTer25
NM_001287395.1:c.2846_2847dup	NP_001274324.1:p.Leu950GlyfsTer25
XM_011511075.1:c.2972_2973dup	XP_011509377.1:p.Leu992GlyfsTer25
XM_011511076.1:c.2972_2973dup	XP_011509378.1:p.Leu992GlyfsTer25
XM_011511077.1:c.2972_2973dup	XP_011509379.1:p.Leu992GlyfsTer25
XM_011511078.1:c.2933_2934dup	XP_011509380.1:p.Leu979GlyfsTer25
XM_011511079.1:c.2927_2928dup	XP_011509381.1:p.Leu977GlyfsTer25
XM_011511080.1:c.2882_2883dup	XP_011509382.1:p.Leu962GlyfsTer25
XM_011511081.1:c.2972_2973dup	XP_011509383.1:p.Leu992GlyfsTer10
XM_011511082.1:c.2972_2973dup	XP_011509384.1:p.Leu992GlyfsTer25
XM_011511083.1:c.2972_2973dup	XP_011509385.1:p.Leu992GlyfsTer25
XM_011511084.1:c.2774_2775dup	XP_011509386.1:p.Leu926GlyfsTer25
XM_011511085.1:c.2138_2139dup	XP_011509387.1:p.Leu714GlyfsTer25
XM_011511086.1:c.2972_2973dup	XP_011509388.1:p.Leu992GlyfsTer9
XM_011511076.2:c.2972_2973dup	XP_011509378.1:p.Leu992GlyfsTer25
XM_011511086.2:c.2972_2973dup	XP_011509388.1:p.Leu992GlyfsTer9
XM_024452839.1:c.2972_2973dup	XP_024308607.1:p.Leu992GlyfsTer25
XM_024452840.1:c.2933_2934dup	XP_024308608.1:p.Leu979GlyfsTer25
XM_024452841.1:c.2927_2928dup	XP_024308609.1:p.Leu977GlyfsTer25
XM_024452842.1:c.2882_2883dup	XP_024308610.1:p.Leu962GlyfsTer25
XM_024452843.1:c.2972_2973dup	XP_024308611.1:p.Leu992GlyfsTer10
XM_024452844.1:c.2972_2973dup	XP_024308612.1:p.Leu992GlyfsTer25
XM_024452845.1:c.2972_2973dup	XP_024308613.1:p.Leu992GlyfsTer25
XM_024452846.1:c.2774_2775dup	XP_024308614.1:p.Leu926GlyfsTer25
XM_024452847.1:c.2138_2139dup	XP_024308615.1:p.Leu714GlyfsTer25
XM_024452848.1:c.2138_2139dup	XP_024308616.1:p.Leu714GlyfsTer25
XM_024452849.1:c.1994_1995dup	XP_024308617.1:p.Leu666GlyfsTer25
NM_001367507.1:c.2837_2838dup	NP_001354436.1:p.Leu947GlyfsTer25
NM_001394639.1:c.2837_2838dup MANE Select	NP_001381568.1:p.Leu947GlyfsTer25