Canonical Allele Identifier: CA2027329

Gene: HIBCH

Linked Data

• dbSNP Id: rs777256015
• ExAC: 2:191069821 T / C
• gnomAD v2: 2-191069821-T-C
• gnomAD v4: 2-190205095-T-C
• MyVariant Identifiers: chr2:g.191069821T>C (hg19) ; chr2:g.190205095T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205095T>C , CM000664.2:g.190205095T>C	GRCh38
NC_000002.11:g.191069821T>C , CM000664.1:g.191069821T>C	GRCh37
NC_000002.10:g.190778066T>C	NCBI36
NG_017062.1:g.119951A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.*22A>G MANE Select	ENSP00000352706.5:n.*22A>G
ENST00000359678.9:c.*22A>G	ENSP00000352706.5:n.*22A>G
ENST00000392332.7:c.*132A>G	ENSP00000376144.3:n.*132A>G
ENST00000399855.2:c.133+5A>G
ENST00000410045.5:c.*22A>G	ENSP00000386274.1:n.*22A>G
ENST00000486981.1:n.413+5A>G
ENST00000622246.4:c.*22A>G	ENSP00000481055.1:n.*22A>G
NM_014362.3:c.*22A>G	NP_055177.2:n.*22A>G
NM_198047.2:c.*132A>G	NP_932164.1:n.*132A>G
XM_011510953.1:c.*17+5A>G	XP_011509255.1:n.*17+5A>G
XM_011510954.1:c.*22A>G	XP_011509256.1:n.*22A>G
XR_922903.1:n.1388+5A>G
XM_011510953.2:c.*17+5A>G	XP_011509255.1:n.*17+5A>G
XR_922903.2:n.1207+5A>G
NM_014362.4:c.*22A>G MANE Select	NP_055177.2:n.*22A>G
NM_198047.3:c.*132A>G	NP_932164.1:n.*132A>G