Canonical Allele Identifier: CA370713922

Gene: DDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38237597C>G , CM000670.2:g.38237597C>G	GRCh38
NC_000008.10:g.38095115C>G , CM000670.1:g.38095115C>G	GRCh37
NC_000008.9:g.38214272C>G	NCBI36
NG_033875.1:g.11107C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397166.7:c.471C>G MANE Select	ENSP00000380352.2:p.Asn157Lys
ENST00000397166.6:c.471C>G	ENSP00000380352.2:p.Asn157Lys
ENST00000519857.5:n.668C>G
ENST00000520272.6:c.471C>G	ENSP00000429932.2:p.Asn157Lys
ENST00000526237.5:c.*28C>G	ENSP00000436994.1:n.*28C>G
ENST00000526370.1:n.550C>G
ENST00000527415.5:c.381C>G	ENSP00000432024.1:p.Asn127Lys
ENST00000528358.5:c.465C>G	ENSP00000433118.1:p.Asn155Lys
ENST00000532222.5:c.471C>G	ENSP00000433578.1:p.Asn157Lys
NM_001164232.1:c.471C>G	NP_001157704.1:p.Asn157Lys
NM_001164234.1:c.471C>G	NP_001157706.1:p.Asn157Lys
NM_015214.2:c.471C>G	NP_056029.2:p.Asn157Lys
XM_005273454.1:c.471C>G	XP_005273511.1:p.Asn157Lys
XM_005273455.2:c.471C>G	XP_005273512.1:p.Asn157Lys
XM_005273456.2:c.471C>G	XP_005273513.1:p.Asn157Lys
XM_011544455.1:c.471C>G	XP_011542757.1:p.Asn157Lys
XM_011544456.1:c.471C>G	XP_011542758.1:p.Asn157Lys
XR_247123.1:n.996C>G
XR_949383.1:n.996C>G
XR_949384.1:n.996C>G
XR_949385.1:n.996C>G
XR_949386.1:n.996C>G
XR_949387.1:n.996C>G
NM_001362911.1:c.471C>G	NP_001349840.1:p.Asn157Lys
NM_001362912.1:c.471C>G	NP_001349841.1:p.Asn157Lys
NM_001362913.1:c.471C>G	NP_001349842.1:p.Asn157Lys
NM_001362914.1:c.471C>G	NP_001349843.1:p.Asn157Lys
NR_156416.1:n.848C>G
NR_156417.1:n.848C>G
XM_011544456.2:c.471C>G	XP_011542758.1:p.Asn157Lys
XM_017013255.2:c.-515C>G	XP_016868744.1:n.-515C>G
XR_001745504.2:n.754C>G
XR_001745506.2:n.754C>G
NM_001362911.2:c.471C>G	NP_001349840.1:p.Asn157Lys
NM_001362912.2:c.471C>G	NP_001349841.1:p.Asn157Lys
NM_015214.3:c.471C>G MANE Select	NP_056029.2:p.Asn157Lys
NR_156417.2:n.754C>G
NM_001164232.2:c.471C>G	NP_001157704.1:p.Asn157Lys
NM_001164234.2:c.471C>G	NP_001157706.1:p.Asn157Lys
NM_001362913.2:c.471C>G	NP_001349842.1:p.Asn157Lys
NM_001362914.2:c.471C>G	NP_001349843.1:p.Asn157Lys
NR_156416.2:n.754C>G