Canonical Allele Identifier: CA15688460

Gene: PAFAH1B2

Linked Data

• dbSNP Id: rs7112513
• gnomAD v2: 11-117037361-A-G
• gnomAD v3: 11-117166645-A-G
• gnomAD v4: 11-117166645-A-G
• MyVariant Identifiers: chr11:g.117037361A>G (hg19) ; chr11:g.117166645A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117166645A>G , CM000673.2:g.117166645A>G	GRCh38
NC_000011.9:g.117037361A>G , CM000673.1:g.117037361A>G	GRCh37
NC_000011.8:g.116542571A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000527958.6:c.412-776A>G MANE Select	ENSP00000435289.1:n.412-776A>G
ENST00000304808.10:c.250-776A>G	ENSP00000304006.6:n.250-776A>G
ENST00000419197.6:c.393+2771A>G	ENSP00000388742.2:n.393+2771A>G
ENST00000526888.1:n.111-9261A>G
ENST00000527958.5:c.412-776A>G	ENSP00000435289.1:n.412-776A>G
ENST00000529887.6:c.411+2753A>G	ENSP00000434951.2:n.411+2753A>G
ENST00000530272.1:c.411+2753A>G	ENSP00000431365.1:n.411+2753A>G
NM_001184746.1:c.411+2753A>G	NP_001171675.1:n.411+2753A>G
NM_001184747.1:c.411+2753A>G	NP_001171676.1:n.411+2753A>G
NM_001184748.1:c.393+2771A>G	NP_001171677.1:n.393+2771A>G
NM_001309431.1:c.268-776A>G	NP_001296360.1:n.268-776A>G
NM_002572.3:c.412-776A>G	NP_002563.1:n.412-776A>G
NR_110268.1:n.553+2753A>G
NR_110269.1:n.553+2753A>G
NR_110282.1:n.259-776A>G
XM_017017840.1:c.451-776A>G	XP_016873329.1:n.451-776A>G
NM_002572.4:c.412-776A>G MANE Select	NP_002563.1:n.412-776A>G
NM_001184746.2:c.411+2753A>G	NP_001171675.1:n.411+2753A>G
NM_001184747.2:c.411+2753A>G	NP_001171676.1:n.411+2753A>G
NM_001309431.2:c.268-776A>G	NP_001296360.1:n.268-776A>G
NR_110268.2:n.550+2753A>G
NR_110269.2:n.550+2753A>G
NR_110282.2:n.256-776A>G
NM_001184748.2:c.393+2771A>G	NP_001171677.1:n.393+2771A>G