Canonical Allele Identifier: CA620825346

Gene: RMI2

Linked Data

• dbSNP Id: rs1339345199
• gnomAD v2: 16-11386743-T-C
• gnomAD v3: 16-11292886-T-C
• gnomAD v4: 16-11292886-T-C
• MyVariant Identifiers: chr16:g.11386743T>C (hg19) ; chr16:g.11292886T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.11292886T>C , CM000678.2:g.11292886T>C	GRCh38
NC_000016.9:g.11386743T>C , CM000678.1:g.11386743T>C	GRCh37
NC_000016.8:g.11294244T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649869.1:n.152+43108T>C
ENST00000572173.1:c.-515-2330T>C	ENSP00000461206.1:n.-515-2330T>C
ENST00000573910.1:n.161-23566T>C
XR_933070.1:n.733+43108T>C
XR_933070.3:n.876+43108T>C