Canonical Allele Identifier: CA341549383

Gene: AMPD2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109621225T>C , CM000663.2:g.109621225T>C	GRCh38
NC_000001.10:g.110163847T>C , CM000663.1:g.110163847T>C	GRCh37
NC_000001.9:g.109965370T>C	NCBI36
NG_034075.1:g.6413T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256578.8:c.50T>C	ENSP00000256578.4:p.Phe17Ser
ENST00000358729.9:c.50T>C	ENSP00000351573.5:p.Phe17Ser
ENST00000369840.7:c.50T>C	ENSP00000358855.3:p.Phe17Ser
ENST00000474459.6:n.448+947T>C
ENST00000486282.7:n.142T>C
ENST00000525415.2:n.308T>C
ENST00000528270.6:c.50T>C	ENSP00000434891.2:p.Phe17Ser
ENST00000528667.7:c.50T>C MANE Select	ENSP00000436541.2:p.Phe17Ser
ENST00000531203.6:c.-271+574T>C	ENSP00000431975.2:n.-271+574T>C
ENST00000531734.6:c.10+947T>C	ENSP00000433739.2:n.10+947T>C
ENST00000652975.2:c.50T>C	ENSP00000499620.2:p.Phe17Ser
ENST00000655992.1:c.-102+947T>C	ENSP00000499740.1:n.-102+947T>C
ENST00000659122.2:c.50T>C	ENSP00000499621.2:p.Phe17Ser
ENST00000663749.1:c.50T>C	ENSP00000499739.1:p.Phe17Ser
ENST00000667949.2:c.-379+947T>C	ENSP00000499465.2:n.-379+947T>C
ENST00000668421.1:c.50T>C	ENSP00000499362.1:p.Phe17Ser
ENST00000679379.1:c.50T>C	ENSP00000505528.1:p.Phe17Ser
ENST00000679593.1:c.50T>C	ENSP00000505999.1:p.Phe17Ser
ENST00000679880.1:n.308T>C
ENST00000679892.1:c.50T>C	ENSP00000504882.1:p.Phe17Ser
ENST00000679981.1:c.50T>C	ENSP00000506422.1:p.Phe17Ser
ENST00000680132.1:c.50T>C	ENSP00000505950.1:p.Phe17Ser
ENST00000680148.1:c.50T>C	ENSP00000505994.1:p.Phe17Ser
ENST00000680170.1:n.308T>C
ENST00000680192.1:n.442+947T>C
ENST00000680519.1:n.442+947T>C
ENST00000680531.1:c.50T>C	ENSP00000506332.1:p.Phe17Ser
ENST00000680820.1:c.50T>C	ENSP00000505735.1:p.Phe17Ser
ENST00000680832.1:c.50T>C	ENSP00000505774.1:p.Phe17Ser
ENST00000680929.1:c.50T>C	ENSP00000504916.1:p.Phe17Ser
ENST00000681108.1:c.50T>C	ENSP00000506701.1:p.Phe17Ser
ENST00000681132.1:c.50T>C	ENSP00000506195.1:p.Phe17Ser
ENST00000681181.1:c.50T>C	ENSP00000506038.1:p.Phe17Ser
ENST00000681218.1:c.50T>C	ENSP00000505976.1:p.Phe17Ser
ENST00000681246.1:c.50T>C	ENSP00000505534.1:p.Phe17Ser
ENST00000681496.1:c.50T>C	ENSP00000505948.1:p.Phe17Ser
ENST00000681834.1:n.258T>C
ENST00000681862.1:c.50T>C	ENSP00000505537.1:p.Phe17Ser
ENST00000256578.7:c.212T>C	ENSP00000256578.3:p.Phe71Ser
ENST00000342115.8:c.10+947T>C	ENSP00000345498.4:n.10+947T>C
ENST00000358729.8:c.118T>C	ENSP00000351573.4:p.Leu40=
ENST00000369840.6:c.123T>C
ENST00000474459.5:c.-379+947T>C	ENSP00000432344.1:n.-379+947T>C
ENST00000486282.6:n.111T>C
ENST00000526301.5:n.292+947T>C
ENST00000528270.5:c.74T>C	ENSP00000434891.1:p.Phe25Ser
ENST00000528667.5:c.212T>C	ENSP00000436541.1:p.Phe71Ser
ENST00000531203.5:c.-271+574T>C	ENSP00000431975.1:n.-271+574T>C
ENST00000531734.5:c.10+947T>C	ENSP00000433739.1:n.10+947T>C
NM_001257360.1:c.212T>C	NP_001244289.1:p.Phe71Ser
NM_001308170.1:c.118T>C	NP_001295099.1:p.Leu40=
NM_004037.7:c.212T>C	NP_004028.3:p.Phe71Ser
NM_139156.3:c.10+947T>C	NP_631895.1:n.10+947T>C
XM_011541247.1:c.597+947T>C	XP_011539549.1:n.597+947T>C
XM_011541248.1:c.597+947T>C	XP_011539550.1:n.597+947T>C
XR_946607.1:n.620+947T>C
XM_024446431.1:c.118T>C	XP_024302199.1:p.Leu40=
XM_024446432.1:c.118T>C	XP_024302200.1:p.Leu40=
XR_002956282.1:n.754T>C
NM_001257360.2:c.212T>C	NP_001244289.1:p.Phe71Ser
NM_001368809.2:c.50T>C MANE Select	NP_001355738.1:p.Phe17Ser
NM_004037.9:c.50T>C	NP_004028.4:p.Phe17Ser
NM_139156.4:c.10+947T>C	NP_631895.1:n.10+947T>C