Canonical Allele Identifier: CA394395813

Gene: AMDHD2 CEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2530970G>C , CM000678.2:g.2530970G>C	GRCh38
NC_000016.9:g.2580971G>C , CM000678.1:g.2580971G>C	GRCh37
NC_000016.8:g.2520972G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293971.11:c.*1407G>C (AMDHD2) MANE Select	ENSP00000293971.6:n.*1407G>C
ENST00000648227.1:c.*1407G>C (AMDHD2)	ENSP00000498048.1:n.*1407G>C
ENST00000302956.8:c.*1407G>C (AMDHD2)	ENSP00000307481.4:n.*1407G>C
ENST00000565480.1:c.104C>G (CEMP1)	ENSP00000455479.1:p.Pro35Arg
ENST00000565570.1:n.1392G>C (AMDHD2)
ENST00000567119.1:c.104C>G (CEMP1) MANE Select	ENSP00000457380.1:p.Pro35Arg
NM_001048212.3:c.104C>G (CEMP1) MANE Select	NP_001041677.1:p.Pro35Arg
XM_017023263.2:c.*1407G>C (AMDHD2)	XP_016878752.1:n.*1407G>C
XM_017023264.2:c.*1407G>C (AMDHD2)	XP_016878753.1:n.*1407G>C
XM_017023265.2:c.*1407G>C (AMDHD2)	XP_016878754.1:n.*1407G>C
XM_017023266.2:c.*1407G>C (AMDHD2)	XP_016878755.1:n.*1407G>C
XM_017023267.2:c.*1407G>C (AMDHD2)	XP_016878756.1:n.*1407G>C
NM_001330449.2:c.*1407G>C (AMDHD2) MANE Select	NP_001317378.1:n.*1407G>C
NM_015944.4:c.*1407G>C (AMDHD2)	NP_057028.2:n.*1407G>C