Canonical Allele Identifier: CA348404209

Gene: PROC

Linked Data

• dbSNP Id: rs1186036467
• gnomAD v2: 2-128185931-A-C
• gnomAD v3: 2-127428355-A-C
• gnomAD v4: 2-127428355-A-C
• MyVariant Identifiers: chr2:g.128185931A>C (hg19) ; chr2:g.127428355A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428355A>C , CM000664.2:g.127428355A>C	GRCh38
NC_000002.11:g.128185931A>C , CM000664.1:g.128185931A>C	GRCh37
NC_000002.10:g.127902401A>C	NCBI36
NG_016323.1:g.14936A>C , LRG_599:g.14936A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.797-2A>C MANE Select	ENSP00000234071.4:n.797-2A>C
ENST00000234071.7:c.797-2A>C	ENSP00000234071.3:n.797-2A>C
ENST00000402125.2:c.121-2A>C
ENST00000409048.1:c.899-2A>C	ENSP00000386679.1:n.899-2A>C
NM_000312.3:c.797-2A>C , LRG_599t1:c.797-2A>C	NP_000303.1:n.797-2A>C
XM_005263715.3:c.980-2A>C	XP_005263772.1:n.980-2A>C
XM_005263716.3:c.962-2A>C	XP_005263773.1:n.962-2A>C
XM_005263717.3:c.860-2A>C	XP_005263774.1:n.860-2A>C
XR_923313.1:n.1332-91T>G
XM_005263717.4:c.860-2A>C	XP_005263774.1:n.860-2A>C
XM_017004505.1:c.1040-2A>C	XP_016859994.1:n.1040-2A>C
XM_024453002.1:c.1142-2A>C	XP_024308770.1:n.1142-2A>C
XM_024453003.1:c.1082-2A>C	XP_024308771.1:n.1082-2A>C
XM_024453004.1:c.980-2A>C	XP_024308772.1:n.980-2A>C
XM_024453005.1:c.962-2A>C	XP_024308773.1:n.962-2A>C
XM_024453006.1:c.899-2A>C	XP_024308774.1:n.899-2A>C
XR_001739705.1:n.3607-91T>G
XR_923313.2:n.4043-91T>G
NM_000312.4:c.797-2A>C MANE Select	NP_000303.1:n.797-2A>C
NM_001375602.1:c.980-2A>C	NP_001362531.1:n.980-2A>C
NM_001375603.1:c.962-2A>C	NP_001362532.1:n.962-2A>C
NM_001375604.1:c.860-2A>C	NP_001362533.1:n.860-2A>C
NM_001375605.1:c.899-2A>C	NP_001362534.1:n.899-2A>C
NM_001375606.1:c.965-2A>C	NP_001362535.1:n.965-2A>C
NM_001375607.1:c.983-2A>C	NP_001362536.1:n.983-2A>C
NM_001375608.1:c.740-2A>C	NP_001362537.1:n.740-2A>C
NM_001375609.1:c.773-2A>C	NP_001362538.1:n.773-2A>C
NM_001375610.1:c.791-2A>C	NP_001362539.1:n.791-2A>C
NM_001375611.1:c.797-2A>C	NP_001362540.1:n.797-2A>C
NM_001375613.1:c.797-2A>C	NP_001362542.1:n.797-2A>C