Canonical Allele Identifier: CA174317

Gene: C2CD6

Linked Data

• ClinVar Variation Id: 161549
• ClinVar RCV Id: RCV000149084
• dbSNP Id: rs193920769
• COSMIC: COSM1178627 ; COSM1178628
• MyVariant Identifiers: chr2:g.202352543A>G (hg19) ; chr2:g.201487820A>G (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201487820A>G , CM000664.2:g.201487820A>G	GRCh38
NC_000002.11:g.202352543A>G , CM000664.1:g.202352543A>G	GRCh37
NC_000002.10:g.202060788A>G	NCBI36
NG_051007.1:g.136363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439140.6:c.5255T>C MANE Select	ENSP00000409937.1:p.Leu1752Ser
ENST00000286195.7:c.1664T>C	ENSP00000286195.3:p.Leu555Ser
ENST00000439140.5:c.5255T>C	ENSP00000409937.1:p.Leu1752Ser
ENST00000439802.5:c.*132T>C	ENSP00000400672.1:n.*132T>C
ENST00000482942.1:n.183T>C
NM_001168216.1:c.*132T>C	NP_001161688.1:n.*132T>C
NM_001168221.1:c.5255T>C	NP_001161693.1:p.Leu1752Ser
NM_152525.5:c.1664T>C	NP_689738.3:p.Leu555Ser
XM_005246347.2:c.5258T>C	XP_005246404.1:p.Leu1753Ser
XM_006712331.2:c.1667T>C	XP_006712394.1:p.Leu556Ser
XM_006712332.2:c.1592T>C	XP_006712395.1:p.Leu531Ser
XM_006712333.2:c.*132T>C	XP_006712396.1:n.*132T>C
XM_006712335.2:c.*69T>C	XP_006712398.1:n.*69T>C
XM_006712336.2:c.*69T>C	XP_006712399.1:n.*69T>C
XM_006712331.3:c.1667T>C	XP_006712394.1:p.Leu556Ser
XM_006712332.3:c.1592T>C	XP_006712395.1:p.Leu531Ser
XM_006712333.3:c.*132T>C	XP_006712396.1:n.*132T>C
XM_006712335.4:c.*69T>C	XP_006712398.1:n.*69T>C
XM_006712336.3:c.*69T>C	XP_006712399.1:n.*69T>C
XM_024452727.1:c.3620T>C	XP_024308495.1:p.Leu1207Ser
XM_024452728.1:c.1589T>C	XP_024308496.1:p.Leu530Ser
NM_001168221.2:c.5255T>C MANE Select	NP_001161693.1:p.Leu1752Ser
NM_001168216.2:c.*132T>C	NP_001161688.1:n.*132T>C
NM_152525.6:c.1664T>C	NP_689738.3:p.Leu555Ser