Canonical Allele Identifier: CA348401640

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183781G>A (hg19) ; chr2:g.127426205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426205G>A , CM000664.2:g.127426205G>A	GRCh38
NC_000002.11:g.128183781G>A , CM000664.1:g.128183781G>A	GRCh37
NC_000002.10:g.127900251G>A	NCBI36
NG_016323.1:g.12786G>A , LRG_599:g.12786G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.656G>A MANE Select	ENSP00000234071.4:p.Arg219Lys
ENST00000234071.7:c.656G>A	ENSP00000234071.3:p.Arg219Lys
ENST00000402125.2:c.121-2152G>A
ENST00000409048.1:c.758G>A	ENSP00000386679.1:p.Arg253Lys
ENST00000464089.1:n.242G>A
NM_000312.3:c.656G>A , LRG_599t1:c.656G>A	NP_000303.1:p.Arg219Lys
XM_005263715.3:c.839G>A	XP_005263772.1:p.Arg280Lys
XM_005263716.3:c.821G>A	XP_005263773.1:p.Arg274Lys
XM_005263717.3:c.719G>A	XP_005263774.1:p.Arg240Lys
XM_005263717.4:c.719G>A	XP_005263774.1:p.Arg240Lys
XM_017004505.1:c.899G>A	XP_016859994.1:p.Arg300Lys
XM_024453002.1:c.1001G>A	XP_024308770.1:p.Arg334Lys
XM_024453003.1:c.941G>A	XP_024308771.1:p.Arg314Lys
XM_024453004.1:c.839G>A	XP_024308772.1:p.Arg280Lys
XM_024453005.1:c.821G>A	XP_024308773.1:p.Arg274Lys
XM_024453006.1:c.758G>A	XP_024308774.1:p.Arg253Lys
XR_923313.2:n.4380C>T
NM_000312.4:c.656G>A MANE Select	NP_000303.1:p.Arg219Lys
NM_001375602.1:c.839G>A	NP_001362531.1:p.Arg280Lys
NM_001375603.1:c.821G>A	NP_001362532.1:p.Arg274Lys
NM_001375604.1:c.719G>A	NP_001362533.1:p.Arg240Lys
NM_001375605.1:c.758G>A	NP_001362534.1:p.Arg253Lys
NM_001375606.1:c.824G>A	NP_001362535.1:p.Arg275Lys
NM_001375607.1:c.842G>A	NP_001362536.1:p.Arg281Lys
NM_001375608.1:c.599G>A	NP_001362537.1:p.Arg200Lys
NM_001375609.1:c.632G>A	NP_001362538.1:p.Arg211Lys
NM_001375610.1:c.650G>A	NP_001362539.1:p.Arg217Lys
NM_001375611.1:c.656G>A	NP_001362540.1:p.Arg219Lys
NM_001375613.1:c.656G>A	NP_001362542.1:p.Arg219Lys