Canonical Allele Identifier: CA367892586

Gene: CACNA2D1

Linked Data

• MyVariant Identifiers: chr7:g.81603794C>G (hg19) ; chr7:g.81974478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974478C>G , CM000669.2:g.81974478C>G	GRCh38
NC_000007.13:g.81603794C>G , CM000669.1:g.81603794C>G	GRCh37
NC_000007.12:g.81441730C>G	NCBI36
NG_009358.2:g.474238G>C , LRG_437:g.474238G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2066G>C	ENSP00000409374.2:p.Arg689Thr
ENST00000705961.1:c.1797G>C
ENST00000705962.1:c.1910G>C	ENSP00000516190.1:p.Arg637Thr
ENST00000356860.8:c.2030G>C MANE Select	ENSP00000349320.3:p.Arg677Thr
ENST00000356253.9:c.2066G>C	ENSP00000348589.5:p.Arg689Thr
ENST00000356860.7:c.2030G>C	ENSP00000349320.3:p.Arg677Thr
ENST00000443883.1:c.562G>C
NM_000722.3:c.2030G>C	NP_000713.2:p.Arg677Thr
XM_005250570.1:c.2066G>C	XP_005250627.1:p.Arg689Thr
XM_005250572.1:c.2015G>C	XP_005250629.1:p.Arg672Thr
XM_005250573.1:c.2009G>C	XP_005250630.1:p.Arg670Thr
XM_005250574.1:c.1994G>C	XP_005250631.1:p.Arg665Thr
XM_006716118.1:c.2087G>C	XP_006716181.1:p.Arg696Thr
XM_006716119.2:c.2012G>C	XP_006716182.1:p.Arg671Thr
XM_006716120.2:c.1970G>C	XP_006716183.1:p.Arg657Thr
XM_006716121.2:c.497G>C	XP_006716184.1:p.Arg166Thr
XM_011516570.1:c.2087G>C	XP_011514872.1:p.Arg696Thr
XM_011516571.1:c.2072G>C	XP_011514873.1:p.Arg691Thr
XM_011516572.1:c.2051G>C	XP_011514874.1:p.Arg684Thr
XM_011516573.1:c.1856G>C	XP_011514875.1:p.Arg619Thr
NM_001366867.1:c.2066G>C	NP_001353796.1:p.Arg689Thr
XM_005250572.3:c.2015G>C	XP_005250629.1:p.Arg672Thr
XM_005250573.3:c.2009G>C	XP_005250630.1:p.Arg670Thr
XM_005250574.3:c.1994G>C	XP_005250631.1:p.Arg665Thr
XM_006716118.3:c.2087G>C	XP_006716181.1:p.Arg696Thr
XM_006716119.3:c.2012G>C	XP_006716182.1:p.Arg671Thr
XM_006716120.3:c.1970G>C	XP_006716183.1:p.Arg657Thr
XM_006716121.3:c.497G>C	XP_006716184.1:p.Arg166Thr
XM_011516570.3:c.2087G>C	XP_011514872.1:p.Arg696Thr
XM_011516571.3:c.2072G>C	XP_011514873.1:p.Arg691Thr
XM_011516572.3:c.2051G>C	XP_011514874.1:p.Arg684Thr
XM_017012588.1:c.1913G>C	XP_016868077.1:p.Arg638Thr
XR_001744873.2:n.2107G>C
XR_001744874.2:n.2014G>C
NM_000722.4:c.2030G>C MANE Select	NP_000713.2:p.Arg677Thr