Canonical Allele Identifier: CA9226038

Gene: MAN2B1

Linked Data

• dbSNP Id: rs762235411
• ExAC: 19:12759951 A / G
• gnomAD v2: 19-12759951-A-G
• gnomAD v4: 19-12649137-A-G
• MyVariant Identifiers: chr19:g.12759951A>G (hg19) ; chr19:g.12649137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649137A>G , CM000681.2:g.12649137A>G	GRCh38
NC_000019.9:g.12759951A>G , CM000681.1:g.12759951A>G	GRCh37
NC_000019.8:g.12620951A>G	NCBI36
NG_008318.1:g.22641T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2435T>C MANE Select	ENSP00000395473.2:p.Met812Thr
ENST00000221363.8:c.2432T>C	ENSP00000221363.4:p.Met811Thr
ENST00000456935.6:c.2435T>C	ENSP00000395473.2:p.Met812Thr
ENST00000466794.5:n.3025T>C
NM_000528.3:c.2435T>C	NP_000519.2:p.Met812Thr
NM_001173498.1:c.2432T>C	NP_001166969.1:p.Met811Thr
XM_005259913.1:c.2438T>C	XP_005259970.1:p.Met813Thr
XM_011528017.1:c.1334T>C	XP_011526319.1:p.Met445Thr
XM_005259913.2:c.2438T>C	XP_005259970.1:p.Met813Thr
XM_024451518.1:c.1334T>C	XP_024307286.1:p.Met445Thr
NM_000528.4:c.2435T>C MANE Select	NP_000519.2:p.Met812Thr
NM_001173498.2:c.2432T>C	NP_001166969.1:p.Met811Thr