Canonical Allele Identifier: CA394436052

Gene: KREMEN2

Linked Data

• ClinVar Variation Id: 487788
• ClinVar RCV Id: RCV000577853
• dbSNP Id: rs1210829529
• MyVariant Identifiers: chr16:g.3016650G>T (hg19) ; chr16:g.2966649G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2966649G>T , CM000678.2:g.2966649G>T	GRCh38
NC_000016.9:g.3016650G>T , CM000678.1:g.3016650G>T	GRCh37
NC_000016.8:g.2956651G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319500.11:c.494G>T	ENSP00000322079.6:p.Gly165Val
ENST00000303746.10:c.494G>T MANE Select	ENSP00000304422.5:p.Gly165Val
ENST00000303746.9:c.494G>T	ENSP00000304422.5:p.Gly165Val
ENST00000319500.10:c.494G>T	ENSP00000322079.6:p.Gly165Val
ENST00000571007.5:c.487-110G>T	ENSP00000461860.1:n.487-110G>T
ENST00000572045.5:c.494G>T	ENSP00000460578.1:p.Gly165Val
ENST00000575769.1:c.494G>T	ENSP00000460917.1:p.Gly165Val
ENST00000575885.5:c.487-110G>T	ENSP00000459878.1:n.487-110G>T
NM_001253725.1:c.487-110G>T	NP_001240654.1:n.487-110G>T
NM_001253726.1:c.487-110G>T	NP_001240655.1:n.487-110G>T
NM_024507.3:c.494G>T	NP_078783.1:p.Gly165Val
NM_172229.2:c.494G>T	NP_757384.1:p.Gly165Val
NM_172229.3:c.494G>T MANE Select	NP_757384.1:p.Gly165Val
NM_001253725.2:c.487-110G>T	NP_001240654.1:n.487-110G>T
NM_001253726.2:c.487-110G>T	NP_001240655.1:n.487-110G>T
NM_024507.4:c.494G>T	NP_078783.1:p.Gly165Val