Canonical Allele Identifier: CA348401582

Gene: PROC

Linked Data

• dbSNP Id: rs1194474395
• gnomAD v2: 2-128183775-T-C
• gnomAD v3: 2-127426199-T-C
• gnomAD v4: 2-127426199-T-C
• MyVariant Identifiers: chr2:g.128183775T>C (hg19) ; chr2:g.127426199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426199T>C , CM000664.2:g.127426199T>C	GRCh38
NC_000002.11:g.128183775T>C , CM000664.1:g.128183775T>C	GRCh37
NC_000002.10:g.127900245T>C	NCBI36
NG_016323.1:g.12780T>C , LRG_599:g.12780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.650T>C MANE Select	ENSP00000234071.4:p.Met217Thr
ENST00000234071.7:c.650T>C	ENSP00000234071.3:p.Met217Thr
ENST00000402125.2:c.121-2158T>C
ENST00000409048.1:c.752T>C	ENSP00000386679.1:p.Met251Thr
ENST00000464089.1:n.236T>C
NM_000312.3:c.650T>C , LRG_599t1:c.650T>C	NP_000303.1:p.Met217Thr
XM_005263715.3:c.833T>C	XP_005263772.1:p.Met278Thr
XM_005263716.3:c.815T>C	XP_005263773.1:p.Met272Thr
XM_005263717.3:c.713T>C	XP_005263774.1:p.Met238Thr
XM_005263717.4:c.713T>C	XP_005263774.1:p.Met238Thr
XM_017004505.1:c.893T>C	XP_016859994.1:p.Met298Thr
XM_024453002.1:c.995T>C	XP_024308770.1:p.Met332Thr
XM_024453003.1:c.935T>C	XP_024308771.1:p.Met312Thr
XM_024453004.1:c.833T>C	XP_024308772.1:p.Met278Thr
XM_024453005.1:c.815T>C	XP_024308773.1:p.Met272Thr
XM_024453006.1:c.752T>C	XP_024308774.1:p.Met251Thr
XR_923313.2:n.4386A>G
NM_000312.4:c.650T>C MANE Select	NP_000303.1:p.Met217Thr
NM_001375602.1:c.833T>C	NP_001362531.1:p.Met278Thr
NM_001375603.1:c.815T>C	NP_001362532.1:p.Met272Thr
NM_001375604.1:c.713T>C	NP_001362533.1:p.Met238Thr
NM_001375605.1:c.752T>C	NP_001362534.1:p.Met251Thr
NM_001375606.1:c.818T>C	NP_001362535.1:p.Met273Thr
NM_001375607.1:c.836T>C	NP_001362536.1:p.Met279Thr
NM_001375608.1:c.593T>C	NP_001362537.1:p.Met198Thr
NM_001375609.1:c.626T>C	NP_001362538.1:p.Met209Thr
NM_001375610.1:c.644T>C	NP_001362539.1:p.Met215Thr
NM_001375611.1:c.650T>C	NP_001362540.1:p.Met217Thr
NM_001375613.1:c.650T>C	NP_001362542.1:p.Met217Thr