Canonical Allele Identifier: CA394390502

Gene: AMDHD2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2529522T>G , CM000678.2:g.2529522T>G	GRCh38
NC_000016.9:g.2579523T>G , CM000678.1:g.2579523T>G	GRCh37
NC_000016.8:g.2519524T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293971.11:c.1189T>G MANE Select	ENSP00000293971.6:p.Ser397Ala
ENST00000648227.1:c.1120T>G	ENSP00000498048.1:p.Ser374Ala
ENST00000293971.10:c.1189T>G	ENSP00000293971.6:p.Ser397Ala
ENST00000302956.8:c.1279T>G	ENSP00000307481.4:p.Ser427Ala
ENST00000413459.7:c.1279T>G	ENSP00000391596.3:p.Ser427Ala
ENST00000563145.1:n.698T>G
ENST00000563444.1:n.427T>G
ENST00000563453.1:n.545T>G
ENST00000565570.1:n.52-108T>G
ENST00000568263.5:c.571T>G	ENSP00000457136.1:p.Ser191Ala
NM_001145815.1:c.1279T>G	NP_001139287.1:p.Ser427Ala
NM_015944.3:c.1279T>G	NP_057028.2:p.Ser427Ala
NM_001330449.1:c.1189T>G	NP_001317378.1:p.Ser397Ala
XM_017023263.2:c.1177T>G	XP_016878752.1:p.Ser393Ala
XM_017023264.2:c.1120T>G	XP_016878753.1:p.Ser374Ala
XM_017023265.2:c.1087T>G	XP_016878754.1:p.Ser363Ala
XM_017023266.2:c.790T>G	XP_016878755.1:p.Ser264Ala
XM_017023267.2:c.571T>G	XP_016878756.1:p.Ser191Ala
NM_001145815.2:c.1279T>G	NP_001139287.1:p.Ser427Ala
NM_001330449.2:c.1189T>G MANE Select	NP_001317378.1:p.Ser397Ala
NM_015944.4:c.1279T>G	NP_057028.2:p.Ser427Ala