Canonical Allele Identifier: CA10642683

Gene: RAX2

Linked Data

• ClinVar Variation Id: 328948
• ClinVar RCV Id: RCV000335277 ; RCV000373528
• dbSNP Id: rs368356816
• gnomAD v2: 19-3769565-G-A
• gnomAD v3: 19-3769567-G-A
• gnomAD v4: 19-3769567-G-A
• MyVariant Identifiers: chr19:g.3769565G>A (hg19) ; chr19:g.3769567G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3769567G>A , CM000681.2:g.3769567G>A	GRCh38
NC_000019.9:g.3769565G>A , CM000681.1:g.3769565G>A	GRCh37
NC_000019.8:g.3720565G>A	NCBI36
NG_011565.1:g.7655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555633.3:c.*1054C>T MANE Select	ENSP00000450456.3:n.*1054C>T
ENST00000555633.2:c.*1054C>T	ENSP00000450456.2:n.*1054C>T
ENST00000555978.5:c.*1054C>T	ENSP00000450687.2:n.*1054C>T
NM_032753.3:c.*1054C>T	NP_116142.1:n.*1054C>T
XM_005259662.1:c.*1054C>T	XP_005259719.1:n.*1054C>T
NM_001319074.1:c.*1054C>T	NP_001306003.1:n.*1054C>T
NM_001319074.4:c.*1054C>T MANE Select	NP_001306003.2:n.*1054C>T
NM_032753.4:c.*1054C>T	NP_116142.1:n.*1054C>T