Canonical Allele Identifier: CA399280000

Gene: ZPBP2

Linked Data

• MyVariant Identifiers: chr17:g.38028678A>C (hg19) ; chr17:g.39872425A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39872425A>C , CM000679.2:g.39872425A>C	GRCh38
NC_000017.10:g.38028678A>C , CM000679.1:g.38028678A>C	GRCh37
NC_000017.9:g.35282204A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348931.9:c.562A>C MANE Select	ENSP00000335384.5:p.Lys188Gln
ENST00000348931.8:c.562A>C	ENSP00000335384.5:p.Lys188Gln
ENST00000377940.3:c.496A>C	ENSP00000367174.3:p.Lys166Gln
ENST00000583811.5:c.208A>C	ENSP00000462463.1:p.Lys70Gln
ENST00000584588.5:c.407-619A>C	ENSP00000462067.1:n.407-619A>C
NM_198844.2:c.496A>C	NP_942141.2:p.Lys166Gln
NM_199321.2:c.562A>C	NP_955353.1:p.Lys188Gln
XM_011524298.1:c.562A>C	XP_011522600.1:p.Lys188Gln
XR_002957959.1:n.753A>C
NM_198844.3:c.496A>C	NP_942141.2:p.Lys166Gln
NM_199321.3:c.562A>C MANE Select	NP_955353.1:p.Lys188Gln