Canonical Allele Identifier: CA400985967

Gene: KCTD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75047372C>T , CM000679.2:g.75047372C>T	GRCh38
NC_000017.10:g.73043467C>T , CM000679.1:g.73043467C>T	GRCh37
NC_000017.9:g.70555062C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015353.3:c.122C>T MANE Select	NP_056168.1:p.Pro41Leu
ENST00000322444.7:c.122C>T MANE Select	ENSP00000312814.6:p.Pro41Leu
NM_015353.2:c.122C>T	NP_056168.1:p.Pro41Leu
NR_110834.1:n.117-47C>T
NR_110834.2:n.76-47C>T
NR_110835.1:n.370-1848C>T
NR_110835.2:n.366-1848C>T
ENST00000322444.6:c.122C>T	ENSP00000312814.6:p.Pro41Leu
ENST00000375286.7:c.50-47C>T	ENSP00000364435.3:n.50-47C>T
ENST00000579242.5:n.460-1848C>T
ENST00000581589.5:c.-258-1848C>T	ENSP00000464630.1:n.-258-1848C>T
ENST00000582840.5:n.526-1848C>T
ENST00000584767.5:n.712-1848C>T
XM_011524575.1:c.122C>T	XP_011522877.1:p.Pro41Leu
XM_011524575.3:c.122C>T	XP_011522877.1:p.Pro41Leu