Canonical Allele Identifier: CA1697286

Gene: C2orf42

Linked Data

• ClinVar Variation Id: 252715
• ClinVar RCV Id: RCV000238669
• dbSNP Id: rs148471734
• ExAC: 2:70408591 G / A
• gnomAD v2: 2-70408591-G-A
• gnomAD v3: 2-70181459-G-A
• gnomAD v4: 2-70181459-G-A
• MyVariant Identifiers: chr2:g.70408591G>A (hg19) ; chr2:g.70181459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70181459G>A , CM000664.2:g.70181459G>A	GRCh38
NC_000002.11:g.70408591G>A , CM000664.1:g.70408591G>A	GRCh37
NC_000002.10:g.70262095G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264434.7:c.527C>T MANE Select	ENSP00000264434.2:p.Pro176Leu
ENST00000264434.6:c.527C>T	ENSP00000264434.2:p.Pro176Leu
ENST00000420306.1:c.527C>T	ENSP00000404515.1:p.Pro176Leu
NM_017880.1:c.527C>T	NP_060350.1:p.Pro176Leu
XM_005264389.1:c.527C>T	XP_005264446.1:p.Pro176Leu
XM_005264390.1:c.527C>T	XP_005264447.1:p.Pro176Leu
XM_005264391.1:c.527C>T	XP_005264448.1:p.Pro176Leu
XM_011532937.1:c.527C>T	XP_011531239.1:p.Pro176Leu
XR_939689.1:n.895C>T
XR_939690.1:n.895C>T
NM_001348758.1:c.527C>T	NP_001335687.1:p.Pro176Leu
NM_001348759.1:c.527C>T	NP_001335688.1:p.Pro176Leu
NM_001348760.1:c.527C>T	NP_001335689.1:p.Pro176Leu
NM_001348761.1:c.527C>T	NP_001335690.1:p.Pro176Leu
NM_001348762.1:c.527C>T	NP_001335691.1:p.Pro176Leu
NM_001348763.1:c.527C>T	NP_001335692.1:p.Pro176Leu
NM_001348764.1:c.527C>T	NP_001335693.1:p.Pro176Leu
NM_017880.2:c.527C>T	NP_060350.1:p.Pro176Leu
NR_145967.1:n.907C>T
NR_145968.1:n.962C>T
NR_145969.1:n.962C>T
NR_145970.1:n.1044C>T
NR_145971.1:n.977C>T
NR_145972.1:n.977C>T
XR_001738795.2:n.862C>T
NM_001348759.2:c.527C>T	NP_001335688.1:p.Pro176Leu
NM_001348760.2:c.527C>T	NP_001335689.1:p.Pro176Leu
NM_001348761.2:c.527C>T	NP_001335690.1:p.Pro176Leu
NM_001348762.2:c.527C>T	NP_001335691.1:p.Pro176Leu
NM_017880.3:c.527C>T MANE Select	NP_060350.1:p.Pro176Leu
NR_145967.2:n.855C>T
NR_145968.2:n.910C>T
NR_145969.2:n.910C>T
NR_145970.2:n.1137C>T
NM_001348758.2:c.527C>T	NP_001335687.1:p.Pro176Leu
NM_001348763.2:c.527C>T	NP_001335692.1:p.Pro176Leu
NM_001348764.2:c.527C>T	NP_001335693.1:p.Pro176Leu
NR_145971.2:n.1285C>T
NR_145972.2:n.1285C>T