Canonical Allele Identifier: CA349740410

Gene: CERKL

Linked Data

• dbSNP Id: rs1688307967
• gnomAD v3: 2-181558618-G-T
• gnomAD v4: 2-181558618-G-T
• MyVariant Identifiers: chr2:g.182423345G>T (hg19) ; chr2:g.181558618G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558618G>T , CM000664.2:g.181558618G>T	GRCh38
NC_000002.11:g.182423345G>T , CM000664.1:g.182423345G>T	GRCh37
NC_000002.10:g.182131590G>T	NCBI36
NG_021178.1:g.103490C>A
NG_021178.2:g.103490C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.12C>A	ENSP00000508396.1:p.Asp4Glu
ENST00000410087.8:c.768C>A MANE Select	ENSP00000386725.3:p.Asp256Glu
ENST00000339098.9:c.846C>A	ENSP00000341159.5:p.Asp282Glu
ENST00000374967.6:c.704C>A	ENSP00000364106.2:n.704C>A
ENST00000374969.6:c.482-8910C>A	ENSP00000364108.2:n.482-8910C>A
ENST00000374970.6:c.614-8910C>A	ENSP00000364109.2:n.614-8910C>A
ENST00000409440.7:c.714C>A	ENSP00000387080.3:p.Asp238Glu
ENST00000410087.7:c.768C>A	ENSP00000386725.3:p.Asp256Glu
ENST00000421817.5:c.*50C>A	ENSP00000411466.1:n.*50C>A
ENST00000452174.5:c.572C>A	ENSP00000409198.1:n.572C>A
ENST00000479558.5:n.766C>A
ENST00000494398.5:n.768C>A
NM_001030311.2:c.846C>A	NP_001025482.1:p.Asp282Glu
NM_001030312.2:c.482-8910C>A	NP_001025483.1:n.482-8910C>A
NM_001030313.2:c.614-8910C>A	NP_001025484.1:n.614-8910C>A
NM_001160277.1:c.714C>A	NP_001153749.1:p.Asp238Glu
NM_201548.4:c.768C>A	NP_963842.1:p.Asp256Glu
NR_027689.1:n.673C>A
NR_027690.1:n.805C>A
NM_201548.5:c.768C>A MANE Select	NP_963842.1:p.Asp256Glu
NM_001030311.3:c.846C>A	NP_001025482.1:p.Asp282Glu
NM_001030312.3:c.482-8910C>A	NP_001025483.1:n.482-8910C>A
NM_001030313.3:c.614-8910C>A	NP_001025484.1:n.614-8910C>A
NM_001160277.2:c.714C>A	NP_001153749.1:p.Asp238Glu
NR_027689.2:n.671C>A
NR_027690.2:n.803C>A