Canonical Allele Identifier: CA993253
Community Standard Title: NM_001368809.2(AMPD2):c.1984-19C>T
Gene: AMPD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109630214C>T , CM000663.2:g.109630214C>T GRCh38
NC_000001.10:g.110172836C>T , CM000663.1:g.110172836C>T GRCh37
NC_000001.9:g.109974359C>T NCBI36
NG_034075.1:g.15402C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001368809.2:c.1984-19C>T MANE Select NP_001355738.1:n.1984-19C>T
ENST00000528667.7:c.1984-19C>T MANE Select ENSP00000436541.2:n.1984-19C>T
NM_001257360.1:c.2146-19C>T NP_001244289.1:n.2146-19C>T
NM_001257360.2:c.2146-19C>T NP_001244289.1:n.2146-19C>T
NM_001257361.1:c.1792-19C>T NP_001244290.1:n.1792-19C>T
NM_001257361.2:c.1792-19C>T NP_001244290.1:n.1792-19C>T
NM_001308170.1:c.1921-19C>T NP_001295099.1:n.1921-19C>T
NM_004037.7:c.2146-19C>T NP_004028.3:n.2146-19C>T
NM_004037.9:c.1984-19C>T NP_004028.4:n.1984-19C>T
NM_139156.3:c.1903-19C>T NP_631895.1:n.1903-19C>T
NM_139156.4:c.1903-19C>T NP_631895.1:n.1903-19C>T
NM_203404.1:c.1789-19C>T NP_981949.1:n.1789-19C>T
ENST00000256578.7:c.2146-19C>T ENSP00000256578.3:n.2146-19C>T
ENST00000256578.8:c.1984-19C>T ENSP00000256578.4:n.1984-19C>T
ENST00000342115.8:c.1903-19C>T ENSP00000345498.4:n.1903-19C>T
ENST00000358729.8:c.1921-19C>T ENSP00000351573.4:n.1921-19C>T
ENST00000358729.9:c.1984-19C>T ENSP00000351573.5:n.1984-19C>T
ENST00000369840.6:c.2057-19C>T
ENST00000369840.7:c.1984-19C>T ENSP00000358855.3:n.1984-19C>T
ENST00000393688.7:c.1789-19C>T ENSP00000377292.3:n.1789-19C>T
ENST00000474459.6:n.2603-19C>T
ENST00000476688.2:c.312-19C>T
ENST00000476688.3:c.1666-19C>T ENSP00000437025.2:n.1666-19C>T
ENST00000479919.1:n.308-19C>T
ENST00000486282.7:n.3238-19C>T
ENST00000524975.2:n.2767-19C>T
ENST00000525415.2:n.2496-19C>T
ENST00000526301.5:n.2181-19C>T
ENST00000526301.6:n.2047-19C>T
ENST00000527846.7:n.1839-19C>T
ENST00000528454.5:c.1792-19C>T ENSP00000437164.1:n.1792-19C>T
ENST00000528667.5:c.2146-19C>T ENSP00000436541.1:n.2146-19C>T
ENST00000531203.6:c.1792-19C>T ENSP00000431975.2:n.1792-19C>T
ENST00000531734.6:c.1903-19C>T ENSP00000433739.2:n.1903-19C>T
ENST00000652975.2:c.*1615-19C>T ENSP00000499620.2:n.*1615-19C>T
ENST00000654851.1:n.1826-19C>T
ENST00000655992.1:c.*93-19C>T ENSP00000499740.1:n.*93-19C>T
ENST00000659122.2:c.1820-19C>T ENSP00000499621.2:n.1820-19C>T
ENST00000663749.1:c.*1610-19C>T ENSP00000499739.1:n.*1610-19C>T
ENST00000667949.2:c.1384-19C>T ENSP00000499465.2:n.1384-19C>T
ENST00000668421.1:c.*1925-19C>T ENSP00000499362.1:n.*1925-19C>T
ENST00000679379.1:c.*1736-19C>T ENSP00000505528.1:n.*1736-19C>T
ENST00000679593.1:c.*93-19C>T ENSP00000505999.1:n.*93-19C>T
ENST00000679880.1:n.2520-19C>T
ENST00000679892.1:c.*1752-19C>T ENSP00000504882.1:n.*1752-19C>T
ENST00000679981.1:c.*1998-19C>T ENSP00000506422.1:n.*1998-19C>T
ENST00000680132.1:c.*1934-19C>T ENSP00000505950.1:n.*1934-19C>T
ENST00000680148.1:c.*1732-19C>T ENSP00000505994.1:n.*1732-19C>T
ENST00000680170.1:n.2849-19C>T
ENST00000680192.1:n.3244-19C>T
ENST00000680519.1:n.2220-19C>T
ENST00000680531.1:c.*1731-19C>T ENSP00000506332.1:n.*1731-19C>T
ENST00000680820.1:c.*2038-19C>T ENSP00000505735.1:n.*2038-19C>T
ENST00000680832.1:c.*2084-19C>T ENSP00000505774.1:n.*2084-19C>T
ENST00000680929.1:c.*1673-19C>T ENSP00000504916.1:n.*1673-19C>T
ENST00000681108.1:c.*1658-19C>T ENSP00000506701.1:n.*1658-19C>T
ENST00000681121.1:c.*1094-19C>T ENSP00000506466.1:n.*1094-19C>T
ENST00000681132.1:c.*1750-19C>T ENSP00000506195.1:n.*1750-19C>T
ENST00000681181.1:c.*2271-19C>T ENSP00000506038.1:n.*2271-19C>T
ENST00000681218.1:c.*2253-19C>T ENSP00000505976.1:n.*2253-19C>T
ENST00000681246.1:c.*1640-19C>T ENSP00000505534.1:n.*1640-19C>T
ENST00000681496.1:c.*2257-19C>T ENSP00000505948.1:n.*2257-19C>T
ENST00000681834.1:n.2628-19C>T
ENST00000681862.1:c.*2110-19C>T ENSP00000505537.1:n.*2110-19C>T
XM_011541247.1:c.2359-19C>T XP_011539549.1:n.2359-19C>T
XM_024446431.1:c.1921-19C>T XP_024302199.1:n.1921-19C>T
XM_024446432.1:c.1843-19C>T XP_024302200.1:n.1843-19C>T
XR_002956282.1:n.2436-19C>T
XR_946607.1:n.2261-19C>T