Canonical Allele Identifier: CA349740698

Gene: CERKL

Linked Data

• MyVariant Identifiers: chr2:g.182423374C>G (hg19) ; chr2:g.181558647C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558647C>G , CM000664.2:g.181558647C>G	GRCh38
NC_000002.11:g.182423374C>G , CM000664.1:g.182423374C>G	GRCh37
NC_000002.10:g.182131619C>G	NCBI36
NG_021178.1:g.103461G>C
NG_021178.2:g.103461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-18G>C	ENSP00000508396.1:n.-18G>C
ENST00000410087.8:c.739G>C MANE Select	ENSP00000386725.3:p.Ala247Pro
ENST00000339098.9:c.817G>C	ENSP00000341159.5:p.Ala273Pro
ENST00000374967.6:c.675G>C	ENSP00000364106.2:n.675G>C
ENST00000374969.6:c.482-8939G>C	ENSP00000364108.2:n.482-8939G>C
ENST00000374970.6:c.614-8939G>C	ENSP00000364109.2:n.614-8939G>C
ENST00000409440.7:c.685G>C	ENSP00000387080.3:p.Ala229Pro
ENST00000410087.7:c.739G>C	ENSP00000386725.3:p.Ala247Pro
ENST00000421817.5:c.*21G>C	ENSP00000411466.1:n.*21G>C
ENST00000452174.5:c.543G>C	ENSP00000409198.1:n.543G>C
ENST00000479558.5:n.737G>C
ENST00000494398.5:n.739G>C
NM_001030311.2:c.817G>C	NP_001025482.1:p.Ala273Pro
NM_001030312.2:c.482-8939G>C	NP_001025483.1:n.482-8939G>C
NM_001030313.2:c.614-8939G>C	NP_001025484.1:n.614-8939G>C
NM_001160277.1:c.685G>C	NP_001153749.1:p.Ala229Pro
NM_201548.4:c.739G>C	NP_963842.1:p.Ala247Pro
NR_027689.1:n.644G>C
NR_027690.1:n.776G>C
NM_201548.5:c.739G>C MANE Select	NP_963842.1:p.Ala247Pro
NM_001030311.3:c.817G>C	NP_001025482.1:p.Ala273Pro
NM_001030312.3:c.482-8939G>C	NP_001025483.1:n.482-8939G>C
NM_001030313.3:c.614-8939G>C	NP_001025484.1:n.614-8939G>C
NM_001160277.2:c.685G>C	NP_001153749.1:p.Ala229Pro
NR_027689.2:n.642G>C
NR_027690.2:n.774G>C