Canonical Allele Identifier: CA348399261

Gene: PROC

Linked Data

• dbSNP Id: rs1688231025
• gnomAD v3: 2-127423193-T-G
• gnomAD v4: 2-127423193-T-G
• MyVariant Identifiers: chr2:g.128180769T>G (hg19) ; chr2:g.127423193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423193T>G , CM000664.2:g.127423193T>G	GRCh38
NC_000002.11:g.128180769T>G , CM000664.1:g.128180769T>G	GRCh37
NC_000002.10:g.127897239T>G	NCBI36
NG_016323.1:g.9774T>G , LRG_599:g.9774T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.400+22T>G MANE Select	ENSP00000234071.4:n.400+22T>G
ENST00000234071.7:c.400+22T>G	ENSP00000234071.3:n.400+22T>G
ENST00000409048.1:c.422T>G	ENSP00000386679.1:p.Leu141Arg
ENST00000419985.5:c.*228T>G	ENSP00000392606.1:n.*228T>G
ENST00000442644.5:c.400+22T>G	ENSP00000411241.1:n.400+22T>G
NM_000312.3:c.400+22T>G , LRG_599t1:c.400+22T>G	NP_000303.1:n.400+22T>G
XM_005263715.3:c.583+22T>G	XP_005263772.1:n.583+22T>G
XM_005263716.3:c.485T>G	XP_005263773.1:p.Leu162Arg
XM_005263717.3:c.463+22T>G	XP_005263774.1:n.463+22T>G
XM_005263717.4:c.463+22T>G	XP_005263774.1:n.463+22T>G
XM_017004505.1:c.643+22T>G	XP_016859994.1:n.643+22T>G
XM_024453002.1:c.665T>G	XP_024308770.1:p.Leu222Arg
XM_024453003.1:c.605T>G	XP_024308771.1:p.Leu202Arg
XM_024453004.1:c.583+22T>G	XP_024308772.1:n.583+22T>G
XM_024453005.1:c.485T>G	XP_024308773.1:p.Leu162Arg
XM_024453006.1:c.422T>G	XP_024308774.1:p.Leu141Arg
NM_000312.4:c.400+22T>G MANE Select	NP_000303.1:n.400+22T>G
NM_001375602.1:c.583+22T>G	NP_001362531.1:n.583+22T>G
NM_001375603.1:c.485T>G	NP_001362532.1:p.Leu162Arg
NM_001375604.1:c.463+22T>G	NP_001362533.1:n.463+22T>G
NM_001375605.1:c.422T>G	NP_001362534.1:p.Leu141Arg
NM_001375606.1:c.568+9T>G	NP_001362535.1:n.568+9T>G
NM_001375607.1:c.506T>G	NP_001362536.1:p.Leu169Arg
NM_001375608.1:c.400+22T>G	NP_001362537.1:n.400+22T>G
NM_001375609.1:c.376+22T>G	NP_001362538.1:n.376+22T>G
NM_001375610.1:c.394+22T>G	NP_001362539.1:n.394+22T>G
NM_001375611.1:c.400+22T>G	NP_001362540.1:n.400+22T>G
NM_001375613.1:c.400+22T>G	NP_001362542.1:n.400+22T>G