Canonical Allele Identifier: CA1964525

Gene: METTL8 DCAF17

Linked Data

• ClinVar Variation Id: 332258
• ClinVar RCV Id: RCV000387966
• dbSNP Id: rs80336595
• ExAC: 2:172290977 G / T
• gnomAD v2: 2-172290977-G-T
• gnomAD v3: 2-171434467-G-T
• gnomAD v4: 2-171434467-G-T
• MyVariant Identifiers: chr2:g.172290977G>T (hg19) ; chr2:g.171434467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171434467G>T , CM000664.2:g.171434467G>T	GRCh38
NC_000002.11:g.172290977G>T , CM000664.1:g.172290977G>T	GRCh37
NC_000002.10:g.171999223G>T	NCBI36
NG_013038.1:g.5217G>T
NG_013038.2:g.5217G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000612742.5:c.-13+207C>A (METTL8)	ENSP00000480056.1:n.-13+207C>A
ENST00000375255.8:c.-111G>T (DCAF17) MANE Select	ENSP00000364404.3:n.-111G>T
ENST00000375255.7:c.-111G>T (DCAF17)	ENSP00000364404.3:n.-111G>T
ENST00000442778.5:c.-13+207C>A (METTL8)	ENSP00000404646.1:n.-13+207C>A
ENST00000453846.5:c.-137+207C>A (METTL8)	ENSP00000411589.1:n.-137+207C>A
ENST00000460188.5:n.115+207C>A (METTL8)
ENST00000462821.1:n.129+207C>A (METTL8)
ENST00000468592.5:n.54+197G>T (DCAF17)
ENST00000539783.5:c.-111G>T (DCAF17)	ENSP00000442238.1:n.-111G>T
ENST00000612742.4:c.-13+207C>A (METTL8)	ENSP00000480056.1:n.-13+207C>A
NM_001164821.1:c.-111G>T (DCAF17)	NP_001158293.1:n.-111G>T
NM_024770.3:c.-13+207C>A (METTL8)	NP_079046.2:n.-13+207C>A
NM_025000.3:c.-111G>T (DCAF17)	NP_079276.2:n.-111G>T
NR_028482.1:n.217G>T (DCAF17)
XM_006712762.2:c.8+207C>A (METTL8)	XP_006712825.1:n.8+207C>A
XM_006712764.2:c.8+207C>A (METTL8)	XP_006712827.1:n.8+207C>A
XM_006712766.2:c.-111G>T (DCAF17)	XP_006712829.1:n.-111G>T
XM_006712767.1:c.-136+197G>T (DCAF17)	XP_006712830.1:n.-136+197G>T
XM_006712772.2:c.-111G>T (DCAF17)	XP_006712835.1:n.-111G>T
XM_011511875.1:c.8+207C>A (METTL8)	XP_011510177.1:n.8+207C>A
XM_011511881.1:c.-111G>T (DCAF17)	XP_011510183.1:n.-111G>T
XM_011511882.1:c.-111G>T (DCAF17)	XP_011510184.1:n.-111G>T
XM_011511883.1:c.-111G>T (DCAF17)	XP_011510185.1:n.-111G>T
XM_011511884.1:c.-111G>T (DCAF17)	XP_011510186.1:n.-111G>T
XM_011511885.1:c.-111G>T (DCAF17)	XP_011510187.1:n.-111G>T
XR_427113.2:n.212G>T (DCAF17)
XR_923027.1:n.30+207C>A (METTL8)
XR_923028.1:n.30+207C>A (METTL8)
XR_923029.1:n.212G>T (DCAF17)
XR_923030.1:n.212G>T (DCAF17)
NM_001321157.1:c.8+207C>A (METTL8)	NP_001308086.1:n.8+207C>A
NM_001321158.1:c.8+207C>A (METTL8)	NP_001308087.1:n.8+207C>A
NM_001321161.1:c.8+207C>A (METTL8)	NP_001308090.1:n.8+207C>A
NM_024770.4:c.-13+207C>A (METTL8)	NP_079046.2:n.-13+207C>A
NR_135568.1:n.130+207C>A (METTL8)
XM_011511875.3:c.8+207C>A (METTL8)	XP_011510177.1:n.8+207C>A
XM_017004984.2:c.8+207C>A (METTL8)	XP_016860473.1:n.8+207C>A
XM_017004986.2:c.-13+207C>A (METTL8)	XP_016860475.1:n.-13+207C>A
XM_017004987.2:c.8+207C>A (METTL8)	XP_016860476.1:n.8+207C>A
XM_017004995.1:c.-111G>T (DCAF17)	XP_016860484.1:n.-111G>T
XM_017004996.1:c.-111G>T (DCAF17)	XP_016860485.1:n.-111G>T
XM_017004997.1:c.-111G>T (DCAF17)	XP_016860486.1:n.-111G>T
XM_017004998.1:c.-905+197G>T (DCAF17)	XP_016860487.1:n.-905+197G>T
XM_017004999.1:c.-111G>T (DCAF17)	XP_016860488.1:n.-111G>T
XM_017005000.1:c.-111G>T (DCAF17)	XP_016860489.1:n.-111G>T
XM_017005001.2:c.-111G>T (DCAF17)	XP_016860490.1:n.-111G>T
XM_017005002.1:c.-671+197G>T (DCAF17)	XP_016860491.1:n.-671+197G>T
XR_001738955.1:n.107+207C>A (METTL8)
XR_001738961.1:n.212G>T (DCAF17)
XR_002959340.1:n.108+207C>A (METTL8)
XR_002959341.1:n.108+207C>A (METTL8)
XR_923027.3:n.107+207C>A (METTL8)
XR_923028.3:n.107+207C>A (METTL8)
NM_025000.4:c.-111G>T (DCAF17) MANE Select	NP_079276.2:n.-111G>T
NM_001321157.2:c.8+207C>A (METTL8)	NP_001308086.1:n.8+207C>A
NM_001321158.2:c.8+207C>A (METTL8)	NP_001308087.1:n.8+207C>A
NM_001321161.2:c.8+207C>A (METTL8)	NP_001308090.1:n.8+207C>A
NR_028482.2:n.242G>T (DCAF17)
NR_135568.2:n.99+207C>A (METTL8)
NM_001164821.2:c.-111G>T (DCAF17)	NP_001158293.1:n.-111G>T
NM_024770.5:c.-13+207C>A (METTL8)	NP_079046.2:n.-13+207C>A